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 | 11,997,316 | A | G | Pathogenic | 217164 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,998,787 | C | T | Pathogenic | 2279 | criteria_provided,_single_submitter | missense_variant |
1 | 11,998,798 | G | T | Pathogenic | 420142 | criteria_provided,_single_submitter | missense_variant |
1 | 11,998,799 | A | G | Pathogenic | 835548 | criteria_provided,_single_submitter | missense_variant |
1 | 11,998,808 | T | C | Pathogenic | 575481 | criteria_provided,_single_submitter | missense_variant |
1 | 11,998,817 | T | C | Pathogenic | 30736 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,998,875 | G | C | Pathogenic | 2017340 | criteria_provided,_single_submitter | missense_variant |
1 | 11,998,875 | G | T | Pathogenic | 2431040 | no_assertion_criteria_provided | missense_variant |
1 | 11,998,997 | T | C | Pathogenic | 694947 | criteria_provided,_single_submitter | missense_variant |
1 | 11,998,997 | T | G | Pathogenic | 567033 | criteria_provided,_single_submitter | missense_variant |
1 | 11,999,009 | G | A | Pathogenic | 243066 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,999,009 | G | T | Pathogenic | 243057 | criteria_provided,_single_submitter | missense_variant |
1 | 11,999,027 | C | T | Pathogenic | 543219 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,999,030 | C | G | Pathogenic | 2272 | criteria_provided,_single_submitter | missense_variant |
1 | 11,999,031 | C | T | Pathogenic | 637945 | criteria_provided,_single_submitter | missense_variant |
1 | 11,999,055 | G | T | Pathogenic | 637279 | criteria_provided,_single_submitter | missense_variant |
1 | 12,001,404 | C | T | Pathogenic | 1456072 | criteria_provided,_single_submitter | missense_variant |
1 | 12,001,423 | G | A | Pathogenic | 2271 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 12,002,012 | A | G | Pathogenic | 1699942 | criteria_provided,_single_submitter | missense_variant |
1 | 12,002,014 | G | C | Pathogenic | 2274 | criteria_provided,_single_submitter | missense_variant |
1 | 12,002,024 | C | T | Pathogenic | 637315 | criteria_provided,_single_submitter | missense_variant |
1 | 12,002,025 | A | C | Pathogenic | 543232 | criteria_provided,_single_submitter | missense_variant |
1 | 12,002,033 | C | T | Pathogenic | 2278 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 12,002,034 | G | C | Pathogenic | 572157 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 12,002,043 | A | C | Pathogenic | 2202705 | criteria_provided,_single_submitter | missense_variant |
1 | 12,002,070 | T | G | Pathogenic | 637292 | criteria_provided,_single_submitter | missense_variant |
1 | 12,002,091 | C | T | Pathogenic | 193898 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 12,009,693 | T | C | Pathogenic | 573744 | criteria_provided,_single_submitter | missense_variant |
1 | 12,011,504 | C | T | Pathogenic | 637283 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 12,011,513 | T | G | Pathogenic | 476769 | criteria_provided,_single_submitter | missense_variant |
1 | 12,021,838 | G | A | Benign | 713174 | criteria_provided,_single_submitter | missense_variant |
1 | 12,029,788 | C | T | Benign | 717886 | criteria_provided,_single_submitter | missense_variant |
1 | 12,029,889 | C | G | Benign | 717888 | criteria_provided,_single_submitter | missense_variant |
1 | 12,031,782 | C | T | Benign | 775129 | criteria_provided,_single_submitter | missense_variant |
1 | 12,031,794 | C | T | Benign | 731578 | criteria_provided,_single_submitter | missense_variant |
1 | 12,142,498 | A | C | Benign | 783277 | criteria_provided,_single_submitter | missense_variant |
1 | 12,192,870 | G | A | Benign | 734527 | criteria_provided,_single_submitter | missense_variant |
1 | 12,192,919 | C | T | Benign | 744556 | criteria_provided,_single_submitter | missense_variant |
1 | 12,193,958 | T | C | Benign | 780214 | criteria_provided,_single_submitter | missense_variant |
1 | 12,201,985 | A | G | Benign | 779853 | criteria_provided,_single_submitter | missense_variant |
1 | 12,249,306 | G | C | Benign | 789690 | criteria_provided,_single_submitter | missense_variant |
1 | 12,253,770 | A | G | Benign | 1541963 | criteria_provided,_single_submitter | missense_variant |
1 | 12,256,336 | G | A | Benign | 784931 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 12,256,375 | G | A | Benign | 716268 | criteria_provided,_single_submitter | missense_variant |
1 | 12,257,056 | A | T | Benign | 2417978 | criteria_provided,_single_submitter | missense_variant |
1 | 12,257,970 | A | G | Benign | 1596131 | criteria_provided,_single_submitter | missense_variant |
1 | 12,258,000 | G | A | Benign | 2049485 | criteria_provided,_single_submitter | missense_variant |
1 | 12,260,964 | A | T | Benign | 1599180 | criteria_provided,_single_submitter | missense_variant |
1 | 12,276,728 | C | T | Benign | 1639723 | criteria_provided,_single_submitter | missense_variant |
1 | 12,276,760 | C | G | Benign | 711685 | criteria_provided,_single_submitter | missense_variant |
1 | 12,276,860 | G | A | Benign | 1599749 | criteria_provided,_single_submitter | missense_variant |
1 | 12,279,562 | A | T | Benign | 1245628 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 12,282,933 | G | A | Benign | 774576 | criteria_provided,_single_submitter | missense_variant |
1 | 12,283,402 | C | T | Benign | 1576779 | criteria_provided,_single_submitter | missense_variant |
1 | 12,338,240 | T | G | Benign | 2060881 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 12,341,800 | C | T | Benign | 1530823 | criteria_provided,_single_submitter | missense_variant |
1 | 12,368,581 | A | G | Pathogenic | 561203 | no_assertion_criteria_provided | missense_variant |
1 | 12,369,530 | A | G | Benign | 1647495 | criteria_provided,_single_submitter | missense_variant |
1 | 12,506,924 | G | A | Benign | 2082735 | criteria_provided,_single_submitter | missense_variant |
1 | 12,507,073 | C | G | Benign | 711687 | criteria_provided,_single_submitter | missense_variant |
1 | 12,793,956 | A | G | Benign | 403339 | criteria_provided,_single_submitter | missense_variant |
1 | 12,861,477 | T | C | Benign | 403340 | criteria_provided,_single_submitter | missense_variant |
1 | 13,583,851 | C | T | Benign | 709645 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 13,780,617 | C | T | Benign | 716658 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 13,780,983 | C | T | Benign | 791148 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 15,444,626 | A | G | Benign | 260158 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 15,461,640 | C | T | Pathogenic | 633595 | criteria_provided,_single_submitter | missense_variant |
1 | 15,462,758 | C | A | Pathogenic | 633593 | no_assertion_criteria_provided | missense_variant |
1 | 15,463,390 | G | A | Pathogenic | 633592 | no_assertion_criteria_provided | missense_variant |
1 | 15,493,953 | G | T | Benign | 782360 | criteria_provided,_single_submitter | missense_variant,non-coding_transcript_variant |
1 | 15,518,212 | G | C | Benign | 709532 | criteria_provided,_single_submitter | missense_variant,non-coding_transcript_variant |
1 | 15,524,118 | G | A | Benign | 1275295 | criteria_provided,_single_submitter | intron_variant,missense_variant,non-coding_transcript_variant |
1 | 15,578,893 | G | A | Benign | 767655 | criteria_provided,_single_submitter | missense_variant |
1 | 15,716,271 | T | C | Benign | 1165088 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 15,718,548 | G | A | Benign | 1653206 | criteria_provided,_single_submitter | missense_variant |
1 | 15,725,495 | G | C | Benign | 478105 | criteria_provided,_single_submitter | missense_variant |
1 | 15,727,132 | C | T | Benign | 478062 | criteria_provided,_single_submitter | missense_variant |
1 | 15,727,156 | C | G | Benign | 478063 | criteria_provided,_single_submitter | missense_variant |
1 | 15,727,337 | A | G | Benign | 478066 | criteria_provided,_single_submitter | missense_variant |
1 | 15,727,358 | G | A | Benign | 478067 | criteria_provided,_single_submitter | missense_variant |
1 | 15,727,394 | C | G | Benign | 1169741 | criteria_provided,_single_submitter | missense_variant |
1 | 15,730,547 | G | A | Benign | 478079 | criteria_provided,_single_submitter | missense_variant |
1 | 15,732,471 | C | T | Benign | 478092 | criteria_provided,_single_submitter | missense_variant |
1 | 15,765,098 | C | T | Benign | 785931 | criteria_provided,_single_submitter | missense_variant |
1 | 15,768,609 | G | A | Benign | 782904 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 15,774,828 | G | T | Benign | 780215 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 15,807,492 | T | C | Benign | 767656 | criteria_provided,_single_submitter | missense_variant |
1 | 15,876,275 | G | A | Benign | 1686334 | criteria_provided,_single_submitter | missense_variant |
1 | 15,876,596 | A | G | Benign | 2256107 | criteria_provided,_single_submitter | missense_variant |
1 | 15,920,891 | G | A | Benign | 716796 | criteria_provided,_single_submitter | missense_variant |
1 | 15,929,149 | C | T | Benign | 1233038 | criteria_provided,_single_submitter | missense_variant |
1 | 15,929,512 | T | C | Benign | 1333155 | criteria_provided,_single_submitter | missense_variant |
1 | 15,931,150 | T | C | Benign | 777885 | criteria_provided,_single_submitter | missense_variant |
1 | 15,931,437 | G | A | Pathogenic | 1801743 | no_assertion_criteria_provided | missense_variant |
1 | 15,932,261 | T | A | Benign | 2498394 | criteria_provided,_single_submitter | missense_variant |
1 | 15,932,307 | G | A | Benign | 2212348 | criteria_provided,_single_submitter | missense_variant |
1 | 15,933,318 | A | G | Benign | 1268492 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 15,933,897 | A | G | Benign | 777886 | criteria_provided,_single_submitter | missense_variant |
1 | 15,935,859 | A | T | Benign | 2215780 | criteria_provided,_single_submitter | missense_variant |
1 | 15,935,970 | A | C | Benign | 403485 | criteria_provided,_single_submitter | missense_variant |
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