chrom stringclasses 24
values | pos int64 45.7k 248M | ref stringclasses 4
values | alt stringclasses 4
values | label stringclasses 2
values | id stringlengths 1 7 | review_status stringclasses 5
values | consequence stringclasses 77
values |
|---|---|---|---|---|---|---|---|
1 | 1,815,796 | G | C | Pathogenic | 1321652 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 1,817,857 | C | T | Benign | 2076600 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 1,916,758 | G | C | Benign | 783273 | criteria_provided,_single_submitter | missense_variant |
1 | 1,923,833 | C | G | Pathogenic | 2443734 | no_assertion_criteria_provided | missense_variant |
1 | 1,927,024 | C | T | Pathogenic | 2443732 | no_assertion_criteria_provided | missense_variant |
1 | 1,970,722 | C | T | Pathogenic | 2443731 | no_assertion_criteria_provided | missense_variant |
1 | 1,974,047 | G | A | Pathogenic | 2443733 | no_assertion_criteria_provided | missense_variant |
1 | 2,029,197 | C | G | Pathogenic | 1805963 | criteria_provided,_single_submitter | missense_variant |
1 | 2,055,515 | G | A | Benign | 714063 | criteria_provided,_single_submitter | missense_variant |
1 | 2,228,825 | C | T | Pathogenic | 409969 | criteria_provided,_single_submitter | missense_variant |
1 | 2,228,828 | T | G | Pathogenic | 224869 | criteria_provided,_single_submitter | missense_variant |
1 | 2,228,848 | T | A | Pathogenic | 2202692 | criteria_provided,_single_submitter | missense_variant |
1 | 2,228,857 | T | C | Pathogenic | 692060 | criteria_provided,_single_submitter | missense_variant |
1 | 2,228,860 | C | G | Pathogenic | 37259 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 2,228,866 | G | C | Pathogenic | 2225761 | criteria_provided,_single_submitter | missense_variant |
1 | 2,228,866 | G | T | Pathogenic | 37262 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 2,228,867 | G | A | Pathogenic | 37260 | criteria_provided,_single_submitter | missense_variant |
1 | 2,228,867 | G | T | Pathogenic | 39783 | criteria_provided,_single_submitter | missense_variant |
1 | 2,228,869 | C | T | Pathogenic | 39786 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 2,229,031 | C | T | Pathogenic | 944376 | criteria_provided,_single_submitter | missense_variant |
1 | 2,406,526 | G | C | Pathogenic | 6771 | no_assertion_criteria_provided | missense_variant,non-coding_transcript_variant |
1 | 2,406,569 | C | G | Pathogenic | 1686018 | criteria_provided,_single_submitter | missense_variant,non-coding_transcript_variant |
1 | 2,408,617 | C | T | Benign | 559056 | criteria_provided,_multiple_submitters,_no_conflicts | initiatior_codon_variant,missense_variant,non-coding_transcript_variant |
1 | 2,408,720 | A | G | Benign | 559058 | criteria_provided,_multiple_submitters,_no_conflicts | 5_prime_UTR_variant,missense_variant,non-coding_transcript_variant |
1 | 2,412,501 | A | G | Pathogenic | 162434 | criteria_provided,_multiple_submitters,_no_conflicts | initiatior_codon_variant,intron_variant,missense_variant |
1 | 2,412,502 | T | A | Pathogenic | 1410903 | criteria_provided,_single_submitter | initiatior_codon_variant,intron_variant,missense_variant |
1 | 2,476,671 | G | C | Benign | 779852 | criteria_provided,_single_submitter | 5_prime_UTR_variant,intron_variant,missense_variant |
1 | 2,479,937 | G | A | Benign | 713841 | criteria_provided,_single_submitter | missense_variant |
1 | 2,504,320 | G | A | Benign | 787198 | criteria_provided,_single_submitter | 3_prime_UTR_variant,missense_variant |
1 | 2,591,973 | C | T | Benign | 737413 | criteria_provided,_single_submitter | missense_variant |
1 | 2,604,193 | T | C | Benign | 712823 | criteria_provided,_single_submitter | missense_variant |
1 | 2,605,602 | T | G | Benign | 727107 | criteria_provided,_single_submitter | missense_variant |
1 | 3,411,763 | G | T | Benign | 474407 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 3,411,794 | T | C | Benign | 227026 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 3,414,616 | T | C | Pathogenic | 60729 | no_assertion_criteria_provided | missense_variant |
1 | 3,426,071 | C | T | Benign | 227034 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 3,430,888 | G | A | Benign | 60727 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 3,478,438 | T | C | Benign | 780210 | criteria_provided,_single_submitter | missense_variant |
1 | 3,490,548 | C | T | Benign | 786447 | criteria_provided,_single_submitter | missense_variant |
1 | 3,495,901 | C | T | Benign | 719697 | criteria_provided,_single_submitter | missense_variant |
1 | 3,498,793 | C | T | Benign | 710836 | criteria_provided,_single_submitter | missense_variant |
1 | 3,499,609 | G | A | Benign | 720893 | criteria_provided,_single_submitter | missense_variant |
1 | 3,501,198 | C | T | Benign | 712404 | criteria_provided,_single_submitter | missense_variant |
1 | 3,501,835 | G | A | Benign | 785924 | criteria_provided,_single_submitter | missense_variant |
1 | 3,514,574 | C | A | Benign | 711682 | criteria_provided,_single_submitter | missense_variant |
1 | 3,515,461 | C | T | Benign | 785926 | criteria_provided,_single_submitter | missense_variant |
1 | 3,602,598 | G | A | Benign | 791772 | criteria_provided,_single_submitter | missense_variant |
1 | 3,727,758 | G | A | Benign | 714065 | criteria_provided,_single_submitter | missense_variant |
1 | 3,752,792 | G | A | Benign | 788937 | criteria_provided,_single_submitter | missense_variant |
1 | 3,823,181 | C | T | Benign | 1168388 | criteria_provided,_single_submitter | missense_variant |
1 | 3,826,391 | G | A | Benign | 1165705 | criteria_provided,_single_submitter | missense_variant |
1 | 3,829,360 | G | A | Benign | 1170301 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 3,836,499 | G | T | Benign | 1274595 | criteria_provided,_single_submitter | missense_variant |
1 | 3,836,572 | A | T | Benign | 1166783 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 4,711,974 | C | T | Benign | 787731 | criteria_provided,_single_submitter | missense_variant |
1 | 4,712,475 | G | A | Benign | 778204 | criteria_provided,_single_submitter | missense_variant |
1 | 5,867,109 | G | A | Benign | 220304 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant,non-coding_transcript_variant |
1 | 5,874,557 | G | A | Benign | 1599216 | criteria_provided,_single_submitter | missense_variant,non-coding_transcript_variant |
1 | 5,874,946 | A | G | Pathogenic | 3402 | no_assertion_criteria_provided | missense_variant,non-coding_transcript_variant |
1 | 5,877,098 | C | T | Benign | 260550 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant,non-coding_transcript_variant |
1 | 5,904,794 | C | T | Benign | 194659 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant,non-coding_transcript_variant |
1 | 5,909,165 | G | C | Benign | 215518 | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant,missense_variant,non-coding_transcript_variant |
1 | 5,986,168 | G | A | Benign | 1626035 | criteria_provided,_single_submitter | 5_prime_UTR_variant,intron_variant,missense_variant,non-coding_transcript_variant |
1 | 5,986,204 | G | A | Benign | 260561 | criteria_provided,_multiple_submitters,_no_conflicts | 5_prime_UTR_variant,intron_variant,missense_variant,non-coding_transcript_variant |
1 | 6,218,354 | A | G | Benign | 1274153 | criteria_provided,_single_submitter | missense_variant |
1 | 6,250,564 | C | T | Benign | 783275 | criteria_provided,_single_submitter | missense_variant |
1 | 6,254,688 | C | T | Benign | 783276 | criteria_provided,_single_submitter | missense_variant |
1 | 6,425,205 | G | T | Benign | 668259 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,440,656 | C | G | Benign | 508587 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,444,559 | C | T | Benign | 178607 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,445,735 | C | T | Benign | 1228456 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,445,736 | G | A | Benign | 676419 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,448,812 | C | T | Benign | 508563 | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant,missense_variant |
1 | 6,448,885 | C | T | Benign | 445819 | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant,missense_variant |
1 | 6,449,070 | C | T | Benign | 1182246 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,451,926 | A | C | Pathogenic | 4420 | no_assertion_criteria_provided | missense_variant |
1 | 6,452,092 | G | A | Pathogenic | 4422 | no_assertion_criteria_provided | missense_variant |
1 | 6,468,009 | C | G | Benign | 287488 | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant,missense_variant |
1 | 6,468,242 | T | C | Benign | 235230 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,468,260 | C | T | Benign | 287487 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,468,408 | C | T | Benign | 285567 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,471,064 | T | C | Benign | 297958 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,471,529 | C | T | Benign | 297959 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,473,333 | G | C | Benign | 198895 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,473,355 | C | T | Benign | 198896 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,475,089 | A | G | Benign | 297975 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 6,485,330 | A | T | Benign | 380863 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 6,574,673 | C | G | Benign | 709202 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 6,575,249 | C | A | Benign | 775497 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 6,578,865 | C | T | Benign | 767648 | criteria_provided,_single_submitter | missense_variant |
1 | 6,578,866 | G | A | Benign | 775498 | criteria_provided,_single_submitter | missense_variant |
1 | 7,249,591 | G | A | Pathogenic | 1691186 | criteria_provided,_single_submitter | missense_variant |
1 | 7,249,592 | A | G | Pathogenic | 1342309 | no_assertion_criteria_provided | missense_variant |
1 | 7,249,611 | G | C | Pathogenic | 973014 | criteria_provided,_single_submitter | missense_variant |
1 | 7,664,159 | T | A | Benign | 732186 | criteria_provided,_single_submitter | missense_variant |
1 | 7,664,637 | C | T | Benign | 712671 | criteria_provided,_single_submitter | missense_variant |
1 | 7,732,460 | G | A | Benign | 788497 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 7,737,443 | C | G | Benign | 128565 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 7,737,468 | G | A | Benign | 2170333 | criteria_provided,_single_submitter | missense_variant |
1 | 7,737,474 | C | T | Benign | 770110 | criteria_provided,_single_submitter | missense_variant |
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