ClinVar Miner

List of variants in gene KCNQ1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.386+16523A>G rs372562223 0.02645
NM_000218.3(KCNQ1):c.386+16519_386+16522del rs202218721 0.02643
NM_000218.3(KCNQ1):c.1252-311C>T rs112193996 0.02189
NC_000011.10:g.2444714C>G rs45478095 0.02054
NM_000218.3(KCNQ1):c.781-117G>A rs41282926 0.01910
NM_000218.3(KCNQ1):c.1794+102C>G rs55771042 0.01828
NM_000218.3(KCNQ1):c.1251+277A>G rs12293360 0.01589
NM_000218.3(KCNQ1):c.781-107G>A rs113455511 0.01115
NM_000218.3(KCNQ1):c.*219G>A rs45477500 0.01002
NM_000218.3(KCNQ1):c.781-177G>A rs180715480 0.00827
NM_000218.3(KCNQ1):c.605-113G>A rs145089031 0.00826
NM_000218.3(KCNQ1):c.*975C>T rs74048340 0.00794
NM_000218.3(KCNQ1):c.683+171G>A rs28730753 0.00616
NM_000218.3(KCNQ1):c.387-250C>T rs116759420 0.00609
NM_000218.3(KCNQ1):c.922-122C>T rs112341530 0.00567
NM_000218.3(KCNQ1):c.1032+165C>T rs143907769 0.00560
NM_000218.3(KCNQ1):c.*350G>A rs114877430 0.00527
NM_000218.3(KCNQ1):c.921+88C>T rs28730755 0.00512
NM_000218.3(KCNQ1):c.780+39G>C rs377589749 0.00451
NM_000218.3(KCNQ1):c.*464G>A rs141960532 0.00438
NM_000218.3(KCNQ1):c.1033-282C>T rs139186125 0.00428
NM_000218.3(KCNQ1):c.478-73A>C rs183131023 0.00414
NM_000218.3(KCNQ1):c.683+258G>T rs78746130 0.00387
NM_000218.3(KCNQ1):c.683+276del rs558054344 0.00353
NM_000218.3(KCNQ1):c.1251+209C>T rs545805070 0.00343
NM_000218.3(KCNQ1):c.1251+87A>G rs566385961 0.00305
NM_000218.3(KCNQ1):c.*837G>A rs139633955 0.00155
NM_000218.3(KCNQ1):c.478-20G>A rs368080519 0.00092
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met) rs75813654 0.00091
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117 0.00062
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000218.3(KCNQ1):c.386+16215C>T rs141322646 0.00053
NM_000218.3(KCNQ1):c.105C>A (p.Pro35=) rs968695655 0.00042
NM_000218.3(KCNQ1):c.1590+31A>T rs184365395 0.00036
NM_000218.3(KCNQ1):c.605-11G>A rs200828849 0.00018
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271 0.00014
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=) rs752457145 0.00013
NM_000218.3(KCNQ1):c.387-7C>T rs201682200 0.00008
NM_000218.3(KCNQ1):c.804C>T (p.Ile268=) rs373227792 0.00008
NM_000218.3(KCNQ1):c.1733-16G>A rs374351635 0.00007
NM_000218.3(KCNQ1):c.1129-9C>T rs758945992 0.00006
NM_000218.3(KCNQ1):c.1733-3T>C rs372912362 0.00006
NM_000218.3(KCNQ1):c.1795-4G>A rs769865006 0.00006
NM_000218.3(KCNQ1):c.1938C>T (p.Gly646=) rs184844767 0.00006
NM_000218.3(KCNQ1):c.780+11C>T rs201316912 0.00006
NM_000218.3(KCNQ1):c.922-18C>T rs750681207 0.00006
NM_000218.3(KCNQ1):c.1033-4C>T rs543599445 0.00004
NM_000218.3(KCNQ1):c.1383T>C (p.Tyr461=) rs794728527 0.00003
NM_000218.3(KCNQ1):c.1656C>T (p.Leu552=) rs745675388 0.00003
NM_000218.3(KCNQ1):c.675G>A (p.Ser225=) rs148566141 0.00003
NM_000218.3(KCNQ1):c.1033-3C>T rs373884260 0.00002
NM_000218.3(KCNQ1):c.1252-15T>C rs367880913 0.00002
NM_000218.3(KCNQ1):c.1591-4G>A rs555518358 0.00002
NM_000218.3(KCNQ1):c.1935C>T (p.Gly645=) rs753256738 0.00002
NM_000218.3(KCNQ1):c.386+9C>A rs766453921 0.00002
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His) rs199473465 0.00002
NM_000218.3(KCNQ1):c.1008C>T (p.Ala336=) rs201009813 0.00001
NM_000218.3(KCNQ1):c.1023G>A (p.Ala341=) rs772363276 0.00001
NM_000218.3(KCNQ1):c.1131C>T (p.Thr377=) rs763723387 0.00001
NM_000218.3(KCNQ1):c.1281A>G (p.Lys427=) rs763197403 0.00001
NM_000218.3(KCNQ1):c.129C>T (p.Gly43=) rs1057520400 0.00001
NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys) rs148266527 0.00001
NM_000218.3(KCNQ1):c.1719C>T (p.Phe573=) rs199472810 0.00001
NM_000218.3(KCNQ1):c.1806G>A (p.Leu602=) rs991680454 0.00001
NM_000218.3(KCNQ1):c.1884C>T (p.Gly628=) rs769848998 0.00001
NM_000218.3(KCNQ1):c.297G>C (p.Pro99=) rs778702162 0.00001
NM_000218.3(KCNQ1):c.324C>T (p.Gly108=) rs372757312 0.00001
NM_000218.3(KCNQ1):c.420C>T (p.Ser140=) rs377520734 0.00001
NM_000218.3(KCNQ1):c.477+4C>T rs763599970 0.00001
NM_000218.3(KCNQ1):c.604+16C>T rs746807746 0.00001
NM_000218.3(KCNQ1):c.612C>T (p.Ile204=) rs199473455 0.00001
NM_000218.3(KCNQ1):c.672G>A (p.Thr224=) rs550887954 0.00001
NM_000218.3(KCNQ1):c.861G>A (p.Ala287=) rs764403483 0.00001
NM_000218.3(KCNQ1):c.999T>G (p.Ser333=) rs769230282 0.00001
GRCh38/hg38 11p15.5(chr11:2601092-2606236)x1
NM_000218.3(KCNQ1):c.*7del rs756899141
NM_000218.3(KCNQ1):c.-24del rs971277753
NM_000218.3(KCNQ1):c.1033-12A>C rs200423553
NM_000218.3(KCNQ1):c.1119A>G (p.Ser373=) rs1057523622
NM_000218.3(KCNQ1):c.1251+13C>A rs201364493
NM_000218.3(KCNQ1):c.1251+13C>T rs201364493
NM_000218.3(KCNQ1):c.1252-102C>T rs373361938
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1374C>T (p.Val458=) rs778598703
NM_000218.3(KCNQ1):c.1521G>A (p.Arg507=) rs2133980949
NM_000218.3(KCNQ1):c.1596G>T (p.Ala532=) rs558452873
NM_000218.3(KCNQ1):c.159C>T (p.Pro53=) rs1057520456
NM_000218.3(KCNQ1):c.160_161insATCGCGCCC (p.Ile54delinsAsnArgAlaLeu) rs2133559689
NM_000218.3(KCNQ1):c.168C>T (p.Pro56=) rs2133559703
NM_000218.3(KCNQ1):c.169_170insATCGCGCCC (p.Gly57delinsAspArgAlaArg) rs2133559718
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=) rs569971691
NM_000218.3(KCNQ1):c.1795-17T>C rs745748068
NM_000218.3(KCNQ1):c.184G>A (p.Ala62Thr) rs794728554
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.478-20_478-19delinsTCAAGG rs1064795214
NM_000218.3(KCNQ1):c.483C>T (p.Ile161=) rs146981549
NM_000218.3(KCNQ1):c.570G>T (p.Arg190=) rs759118145
NM_000218.3(KCNQ1):c.605-18C>G rs192254843
NM_000218.3(KCNQ1):c.624C>T (p.Ala208=) rs1057524320
NM_000218.3(KCNQ1):c.705C>T (p.Ile235=) rs1057521015
NM_000218.3(KCNQ1):c.723C>T (p.Val241=) rs1358413257
NM_000218.3(KCNQ1):c.831G>A (p.Ser277=) rs761225039
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=) rs181106858
NM_000218.3(KCNQ1):c.921+316C>G rs149311746
NM_000218.3(KCNQ1):c.957G>T (p.Val319=) rs1047752391

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