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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr19 | 36,090,502 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | WDR62 | 194,612 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 36,091,277 | G | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | WDR62 | 194,718 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 36,103,614 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | WDR62 | 196,612 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 36,103,640 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 12 | WDR62 | 196,613 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr19 | 36,102,820 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 242,539 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr19 | 36,089,289 | C | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | WDR62 | 280,634 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr19 | 36,104,794 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | WDR62 | 283,789 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 36,102,747 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | WDR62 | 284,594 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 36,099,386 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | WDR62 | 328,917 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,058,890 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | WDR62 | 382,897 | Far from Splice site (> 5bp) | intergenic | upstream_gene_variant | SNV |
chr19 | 36,067,459 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | WDR62 | 378,858 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,090,425 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | WDR62 | 383,813 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,083,125 | C | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | WDR62 | 437,288 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr19 | 36,103,208 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | WDR62 | 437,291 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr19 | 36,067,872 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | WDR62 | 514,101 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr19 | 36,099,453 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 520,801 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr19 | 36,067,211 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 670,276 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,081,662 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 672,329 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,101,455 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 676,977 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,094,272 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 670,283 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,104,134 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 670,286 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,104,356 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 672,336 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,090,361 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 672,331 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,055,325 | C | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 670,275 | Far from Splice site (> 5bp) | intergenic | upstream_gene_variant | SNV |
chr19 | 36,073,751 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 670,861 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,101,850 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 670,469 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,104,594 | T | TC | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 817,985 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr19 | 36,073,542 | C | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | WDR62 | 890,996 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,097,084 | G | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | WDR62 | 961,943 | Near Splice site (<= 5bp) | splice_site | splice_region_variant | SNV |
chr19 | 36,081,432 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 1,187,007 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr19 | 36,099,634 | C | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | WDR62 | 1,201,655 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,094,271 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 1,222,784 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,092,620 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 1,226,183 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,073,806 | T | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 1,230,675 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,059,875 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 1,235,535 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,068,046 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 1,242,306 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,101,101 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 1,257,109 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,081,821 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 1,272,946 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,086,829 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 1,898,969 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr19 | 36,103,555 | GCCACACTGGC | G | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | WDR62 | 1,981,207 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr12 | 123,253,921 | GT | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | MTRFR | 53 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr12 | 123,253,883 | CA | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 12 | MTRFR | 54 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr12 | 123,256,924 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | MTRFR | 39,582 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr12 | 123,253,718 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 8 | MTRFR | 128,535 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr12 | 123,253,947 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | MTRFR | 262,628 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr12 | 123,257,514 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | MTRFR | 307,507 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr12 | 123,257,546 | T | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | MTRFR | 307,508 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr12 | 123,257,229 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | MTRFR | 307,502 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr12 | 123,256,998 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | MTRFR | 517,075 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr12 | 123,253,386 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | MTRFR | 680,559 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr12 | 123,233,754 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | MTRFR | 671,535 | Far from Splice site (> 5bp) | intergenic | upstream_gene_variant | SNV |
chr12 | 123,256,839 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | MTRFR | 698,233 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr12 | 123,254,131 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | MTRFR | 1,292,964 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr15 | 48,793,359 | T | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | CEP152 | 55 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr15 | 48,756,289 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | CEP152 | 56 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr15 | 48,739,002 | AAC | A | 1 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | CEP152 | 31,033 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr15 | 48,755,923 | C | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | CEP152 | 95,652 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr15 | 48,752,341 | C | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 10 | CEP152 | 95,653 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr15 | 48,739,297 | T | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | CEP152 | 95,654 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr15 | 48,797,978 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | CEP152 | 136,719 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr15 | 48,796,001 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 8 | CEP152 | 136,720 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr15 | 48,767,476 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | CEP152 | 136,721 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr15 | 48,762,575 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 7 | CEP152 | 136,722 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr15 | 48,756,508 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 7 | CEP152 | 136,723 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr15 | 48,810,979 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 136,724 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr15 | 48,810,978 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 136,725 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr15 | 48,810,977 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 136,726 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_premature_start_codon_gain_variant | SNV |
chr15 | 48,738,468 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | CEP152 | 158,269 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr15 | 48,738,525 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | CEP152 | 158,267 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr15 | 48,739,083 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | CEP152 | 158,263 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr15 | 48,755,931 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | CEP152 | 158,254 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr15 | 48,767,448 | A | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 16 | CEP152 | 158,240 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr15 | 48,768,336 | C | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | CEP152 | 158,235 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr15 | 48,781,190 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 7 | CEP152 | 158,229 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr15 | 48,788,818 | TG | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 158,223 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr15 | 48,791,380 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 9 | CEP152 | 158,274 | Near Splice site (<= 5bp) | splice_site | splice_region_variant | SNV |
chr15 | 48,797,937 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 7 | CEP152 | 158,236 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr15 | 48,805,537 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 158,275 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr15 | 48,767,444 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 265,076 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr15 | 48,756,444 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 316,420 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr15 | 48,811,047 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 316,436 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr15 | 48,738,055 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 316,404 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr15 | 48,738,079 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 316,405 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr15 | 48,798,058 | C | CA | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 420,382 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | insertion |
chr15 | 48,756,035 | CA | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | CEP152 | 434,736 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr15 | 48,755,998 | CA | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | CEP152 | 503,918 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr15 | 48,797,527 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 517,617 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr15 | 48,760,231 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 644,237 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr15 | 48,781,099 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 680,093 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr15 | 48,805,819 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 678,332 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr15 | 48,738,303 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 744,283 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr15 | 48,797,523 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 756,086 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr15 | 48,797,498 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 931,704 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr15 | 48,768,955 | C | A | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 2,505,978 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr15 | 48,797,373 | A | AC | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | CEP152 | 1,186,425 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr15 | 48,762,755 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 1,236,255 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr15 | 48,782,342 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 1,249,557 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr15 | 48,805,448 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 1,293,000 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr15 | 48,791,235 | A | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 1,324,053 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr15 | 48,797,300 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 1,324,054 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
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