chrom string | pos int64 | ref string | alt string | ClinSigSimple int64 | ClinicalSignificance string | ReviewStatus string | NumberSubmitters int64 | GeneSymbol string | VariationID int64 | feature_lvl2 string | genomic_element string | consequence string | variant_type string |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr4 | 43,030,451 | C | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | GRXCR1 | 505,242 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr4 | 42,893,345 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | GRXCR1 | 872,743 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr4 | 42,962,976 | G | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | GRXCR1 | 987,829 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr4 | 42,893,854 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | GRXCR1 | 1,226,648 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr4 | 42,893,698 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | GRXCR1 | 1,239,056 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr4 | 42,963,309 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | GRXCR1 | 1,239,914 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr4 | 43,020,205 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | GRXCR1 | 1,288,029 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr4 | 42,893,456 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | GRXCR1 | 1,297,902 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr11 | 61,393,965 | G | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 18 | TMEM216 | 197 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr11 | 61,393,965 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | TMEM216 | 198 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr11 | 61,397,797 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 12 | TMEM216 | 56,384 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr11 | 61,397,808 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 12 | TMEM216 | 126,296 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr11 | 61,398,269 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 12 | TMEM216 | 126,297 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr11 | 61,398,259 | C | CA | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | TMEM216 | 167,734 | Far from Splice site (> 5bp) | intergenic | downstream_gene_variant | insertion |
chr11 | 61,392,630 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 7 | TMEM216 | 193,188 | Near Splice site (<= 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr11 | 61,397,942 | T | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | TMEM216 | 217,704 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr11 | 61,392,608 | C | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | TMEM216 | 257,595 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr11 | 61,393,214 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 9 | TMEM216 | 257,597 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr11 | 61,397,797 | C | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | TMEM216 | 282,947 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr11 | 61,398,834 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TMEM216 | 305,090 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr11 | 61,398,720 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | TMEM216 | 305,089 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr11 | 61,392,667 | T | C | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | TMEM216 | 371,740 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr11 | 61,393,229 | A | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | TMEM216 | 371,778 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr11 | 61,393,968 | TG | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TMEM216 | 371,759 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr11 | 61,393,969 | G | GT | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TMEM216 | 371,710 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr11 | 61,393,215 | TGTGCTCCTTTTTCAG | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | TMEM216 | 376,902 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr11 | 61,393,883 | G | A | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TMEM216 | 558,218 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr11 | 61,393,261 | TC | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | TMEM216 | 591,162 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr11 | 61,397,772 | A | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TMEM216 | 961,772 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr11 | 61,393,882 | A | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TMEM216 | 1,066,361 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr11 | 61,393,283 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TMEM216 | 1,073,194 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr11 | 61,393,937 | CT | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TMEM216 | 1,176,283 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr11 | 61,394,054 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TMEM216 | 1,285,922 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr11 | 61,393,977 | G | A | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TMEM216 | 1,494,212 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr19 | 33,401,862 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | PEPD | 208 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr19 | 33,401,855 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | PEPD | 212 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr19 | 33,387,892 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 7 | PEPD | 213 | Near Splice site (<= 5bp) | CDS | missense_variant | SNV |
chr19 | 33,388,071 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | PEPD | 328,796 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr19 | 33,391,349 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 7 | PEPD | 328,800 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 33,413,620 | GAGT | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 7 | PEPD | 328,810 | Far from Splice site (> 5bp) | intergenic | disruptive_inframe_deletion | deletion |
chr19 | 33,387,133 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | PEPD | 328,777 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr19 | 33,387,165 | G | GTAAT | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 328,778 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | insertion |
chr19 | 33,387,917 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | PEPD | 328,788 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 33,391,316 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | PEPD | 328,799 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 33,478,099 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 328,814 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,387,292 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | PEPD | 328,781 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr19 | 33,387,356 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | PEPD | 328,783 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 33,387,931 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | PEPD | 328,791 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr19 | 33,463,006 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | PEPD | 328,812 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 33,490,043 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | PEPD | 328,817 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 33,387,441 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 328,784 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr19 | 33,411,746 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | PEPD | 328,808 | Near Splice site (<= 5bp) | CDS | synonymous_variant | SNV |
chr19 | 33,391,470 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | PEPD | 620,168 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr19 | 33,387,978 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | PEPD | 782,167 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr19 | 33,478,085 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | PEPD | 791,721 | Near Splice site (<= 5bp) | CDS | missense_variant | SNV |
chr19 | 33,463,971 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | PEPD | 1,167,152 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,391,058 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,179,808 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,462,894 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,221,345 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,391,552 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | PEPD | 1,230,715 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,490,148 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,234,693 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,462,925 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,235,480 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,413,923 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,246,016 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,413,878 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,249,374 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,477,809 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,255,327 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,463,867 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,267,813 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,500,716 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,267,901 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,512,468 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,268,073 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,490,087 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,272,131 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,512,806 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,278,458 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,493,144 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,281,405 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,462,837 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,290,300 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,463,811 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,294,949 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 33,493,313 | T | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | PEPD | 1,324,875 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr19 | 33,401,862 | CG | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,327,989 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr19 | 33,401,870 | C | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 1,485,637 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr19 | 33,411,670 | A | C | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | PEPD | 2,630,874 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr4 | 177,434,387 | C | CA | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 9 | AGA | 225 | Near Splice site (<= 5bp) | CDS | frameshift_variant | insertion |
chr4 | 177,433,213 | C | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | AGA | 227 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr4 | 177,439,624 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | AGA | 55,942 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr4 | 177,438,865 | T | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | AGA | 55,945 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr4 | 177,438,749 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 7 | AGA | 55,949 | Near Splice site (<= 5bp) | CDS | stop_gained | SNV |
chr4 | 177,436,297 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | AGA | 55,950 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr4 | 177,440,260 | A | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 11 | AGA | 92,307 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr4 | 177,438,806 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 13 | AGA | 92,308 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr4 | 177,439,651 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | AGA | 291,257 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr4 | 177,431,525 | T | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | AGA | 348,224 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr4 | 177,438,779 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | AGA | 370,266 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr4 | 177,439,636 | TA | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | AGA | 371,375 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr4 | 177,442,248 | C | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | AGA | 370,533 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr4 | 177,442,375 | T | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | AGA | 371,140 | Near Splice site (<= 5bp) | CDS | start_lost | SNV |
chr4 | 177,437,521 | T | C | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | AGA | 373,678 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr4 | 177,442,268 | AAAGGGCC | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 7 | AGA | 495,346 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr4 | 177,439,657 | G | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | AGA | 529,230 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr4 | 177,439,555 | TCA | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | AGA | 554,413 | Far from Splice site (> 5bp) | intron | intron_variant | deletion |
chr4 | 177,440,272 | C | A | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | AGA | 550,676 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr4 | 177,442,289 | CA | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | AGA | 552,792 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr4 | 177,442,373 | C | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | AGA | 551,282 | Near Splice site (<= 5bp) | CDS | start_lost | SNV |
chr4 | 177,433,213 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | AGA | 555,229 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr4 | 177,439,605 | G | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | AGA | 557,564 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr4 | 177,440,361 | CA | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | AGA | 550,967 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
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