ClinVar Miner

List of variants in gene KCNQ1 reported by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 437
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_000218.3(KCNQ1):c.478-8C>T rs150711844 0.00150
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765 0.00126
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.1332G>A (p.Thr444=) rs144985256 0.00054
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=) rs140019543 0.00049
NM_000218.3(KCNQ1):c.972C>T (p.Val324=) rs554518844 0.00047
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266 0.00038
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820 0.00024
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000218.3(KCNQ1):c.605-11G>A rs200828849 0.00018
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000218.3(KCNQ1):c.1926C>T (p.Cys642=) rs12720454 0.00016
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=) rs752457145 0.00013
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr) rs184636161 0.00011
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) rs199472706 0.00011
NM_000218.3(KCNQ1):c.1033-12A>G rs200423553 0.00009
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=) rs144615901 0.00009
NM_000218.3(KCNQ1):c.387-7C>T rs201682200 0.00008
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000218.3(KCNQ1):c.804C>T (p.Ile268=) rs373227792 0.00008
NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp) rs766616232 0.00007
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000218.3(KCNQ1):c.493G>A (p.Val165Met) rs1085307580 0.00007
NM_000218.3(KCNQ1):c.1129-9C>T rs758945992 0.00006
NM_000218.3(KCNQ1):c.1596G>A (p.Ala532=) rs558452873 0.00006
NM_000218.3(KCNQ1):c.1733-3T>C rs372912362 0.00006
NM_000218.3(KCNQ1):c.1733-7C>G rs367568223 0.00006
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190 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.2017G>A (p.Asp673Asn) rs866169644 0.00006
NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp) rs199472736 0.00006
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_000218.3(KCNQ1):c.1128+4C>T rs201590918 0.00005
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln) rs145974930 0.00005
NM_000218.3(KCNQ1):c.1686-4C>T rs548313980 0.00005
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_000218.3(KCNQ1):c.1761G>A (p.Thr587=) rs148794853 0.00005
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046 0.00005
NM_000218.3(KCNQ1):c.1902C>T (p.Gly634=) rs774046442 0.00005
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484 0.00005
NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu) rs199472735 0.00005
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464 0.00005
NM_000218.3(KCNQ1):c.1033-13C>T rs765281450 0.00004
NM_000218.3(KCNQ1):c.1033-15T>A rs534945737 0.00004
NM_000218.3(KCNQ1):c.1033-4C>T rs543599445 0.00004
NM_000218.3(KCNQ1):c.1033-5C>G rs764094211 0.00004
NM_000218.3(KCNQ1):c.1107G>A (p.Pro369=) rs746037904 0.00004
NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys) rs372583676 0.00004
NM_000218.3(KCNQ1):c.1533G>A (p.Arg511=) rs535306115 0.00004
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000218.3(KCNQ1):c.1750G>A (p.Gly584Ser) rs199472811 0.00004
NM_000218.3(KCNQ1):c.1905G>A (p.Gly635=) rs1003639764 0.00004
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn) rs781333509 0.00004
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp) rs150172393 0.00004
NM_000218.3(KCNQ1):c.603C>T (p.Ile201=) rs146190510 0.00004
NM_000218.3(KCNQ1):c.658C>A (p.Gln220Lys) rs755789171 0.00004
NM_000218.3(KCNQ1):c.1197C>A (p.Ala399=) rs756413033 0.00003
NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg) rs1351149628 0.00003
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn) rs747704276 0.00003
NM_000218.3(KCNQ1):c.1378G>A (p.Gly460Ser) rs199472783 0.00003
NM_000218.3(KCNQ1):c.1379G>A (p.Gly460Asp) rs770410327 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787 0.00003
NM_000218.3(KCNQ1):c.1767C>T (p.Gly589=) rs368364062 0.00003
NM_000218.3(KCNQ1):c.1881C>T (p.Ser627=) rs781272088 0.00003
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser) rs763478809 0.00003
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) rs201698592 0.00003
NM_000218.3(KCNQ1):c.2016C>T (p.Pro672=) rs751946698 0.00003
NM_000218.3(KCNQ1):c.484G>A (p.Val162Met) rs199472692 0.00003
NM_000218.3(KCNQ1):c.501C>T (p.Phe167=) rs774085613 0.00003
NM_000218.3(KCNQ1):c.618C>T (p.Val206=) rs772565627 0.00003
NM_000218.3(KCNQ1):c.675G>A (p.Ser225=) rs148566141 0.00003
NM_000218.3(KCNQ1):c.683+3G>A rs1025802726 0.00003
NM_000218.3(KCNQ1):c.719A>G (p.His240Arg) rs533669726 0.00003
NM_000218.3(KCNQ1):c.858C>T (p.Asp286=) rs760047145 0.00003
NM_000218.3(KCNQ1):c.930C>A (p.Val310=) rs766494998 0.00003
NM_000218.3(KCNQ1):c.966G>A (p.Thr322=) rs777450662 0.00003
NM_000218.3(KCNQ1):c.1128+5G>A rs76735093 0.00002
NM_000218.3(KCNQ1):c.1252-15T>C rs367880913 0.00002
NM_000218.3(KCNQ1):c.1252G>A (p.Val418Ile) rs777347006 0.00002
NM_000218.3(KCNQ1):c.1321C>T (p.Pro441Ser) rs199473475 0.00002
NM_000218.3(KCNQ1):c.1386C>T (p.Asp462=) rs749631604 0.00002
NM_000218.3(KCNQ1):c.1591-4G>A rs555518358 0.00002
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796 0.00002
NM_000218.3(KCNQ1):c.1725C>T (p.Ser575=) rs199561157 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000218.3(KCNQ1):c.1795-10G>A rs780067234 0.00002
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser) rs745990205 0.00002
NM_000218.3(KCNQ1):c.1892C>G (p.Pro631Arg) rs1432436411 0.00002
NM_000218.3(KCNQ1):c.1935C>T (p.Gly645=) rs753256738 0.00002
NM_000218.3(KCNQ1):c.2020G>A (p.Glu674Lys) rs762122463 0.00002
NM_000218.3(KCNQ1):c.417C>T (p.Phe139=) rs149143353 0.00002
NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr) rs794728577 0.00002
NM_000218.3(KCNQ1):c.507G>A (p.Thr169=) rs375845797 0.00002
NM_000218.3(KCNQ1):c.525C>T (p.Leu175=) rs751902200 0.00002
NM_000218.3(KCNQ1):c.553G>A (p.Val185Met) rs749351255 0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320 0.00002
NM_000218.3(KCNQ1):c.642C>T (p.Cys214=) rs775479779 0.00002
NM_000218.3(KCNQ1):c.678C>G (p.Ala226=) rs771489129 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His) rs199473465 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000218.3(KCNQ1):c.948G>C (p.Gly316=) rs727505231 0.00002
NM_000218.3(KCNQ1):c.*2G>T rs977184677 0.00001
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.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1035G>A (p.Gly345=) rs534906627 0.00001
NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=) rs199630316 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val) rs775362401 0.00001
NM_000218.3(KCNQ1):c.1128+3G>A rs539607508 0.00001
NM_000218.3(KCNQ1):c.1131C>T (p.Thr377=) rs763723387 0.00001
NM_000218.3(KCNQ1):c.1140G>A (p.Arg380=) rs199472771 0.00001
NM_000218.3(KCNQ1):c.1161C>T (p.Pro387=) rs772078282 0.00001
NM_000218.3(KCNQ1):c.1164C>T (p.Asp388=) rs555968887 0.00001
NM_000218.3(KCNQ1):c.1173C>T (p.Thr391=) rs770808054 0.00001
NM_000218.3(KCNQ1):c.1185C>T (p.Tyr395=) rs764870839 0.00001
NM_000218.3(KCNQ1):c.1198C>G (p.Pro400Ala) rs1489132337 0.00001
NM_000218.3(KCNQ1):c.1209C>T (p.His403=) rs779294146 0.00001
NM_000218.3(KCNQ1):c.1246G>A (p.Val416Met) rs777546418 0.00001
NM_000218.3(KCNQ1):c.1252-11G>T rs773848861 0.00001
NM_000218.3(KCNQ1):c.1257G>A (p.Lys419=) rs759955554 0.00001
NM_000218.3(KCNQ1):c.1263A>G (p.Lys421=) rs765645573 0.00001
NM_000218.3(KCNQ1):c.1281A>G (p.Lys427=) rs763197403 0.00001
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) rs149089817 0.00001
NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp) rs199472782 0.00001
NM_000218.3(KCNQ1):c.1356G>T (p.Arg452=) rs753619991 0.00001
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=) rs200418488 0.00001
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296 0.00001
NM_000218.3(KCNQ1):c.1532G>A (p.Arg511Gln) rs753962384 0.00001
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793 0.00001
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln) rs574321120 0.00001
NM_000218.3(KCNQ1):c.1608C>T (p.Tyr536=) rs138551008 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.1716G>A (p.Leu572=) rs886039093 0.00001
NM_000218.3(KCNQ1):c.1732+4G>A rs1846720105 0.00001
NM_000218.3(KCNQ1):c.1764C>T (p.Ile588=) rs377206449 0.00001
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) rs780676796 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.1785A>G (p.Val595=) rs1027750390 0.00001
NM_000218.3(KCNQ1):c.1794+6C>T rs1481251308 0.00001
NM_000218.3(KCNQ1):c.1795-5C>T rs727503104 0.00001
NM_000218.3(KCNQ1):c.1795-6C>T rs1412279664 0.00001
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=) rs774101297 0.00001
NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=) rs962199389 0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821 0.00001
NM_000218.3(KCNQ1):c.1884C>T (p.Gly628=) rs769848998 0.00001
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu) rs939431028 0.00001
NM_000218.3(KCNQ1):c.1919A>T (p.Gln640Leu) rs1246665674 0.00001
NM_000218.3(KCNQ1):c.1925G>T (p.Cys642Phe) rs1456989889 0.00001
NM_000218.3(KCNQ1):c.1978C>T (p.Pro660Ser) rs867880610 0.00001
NM_000218.3(KCNQ1):c.1998C>T (p.Thr666=) rs775497150 0.00001
NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) rs776119582 0.00001
NM_000218.3(KCNQ1):c.2007G>C (p.Arg669Ser) rs1224780355 0.00001
NM_000218.3(KCNQ1):c.2009G>A (p.Arg670Lys) rs763389576 0.00001
NM_000218.3(KCNQ1):c.2011G>A (p.Gly671Ser) rs764563996 0.00001
NM_000218.3(KCNQ1):c.394A>C (p.Ile132Leu) rs199472684 0.00001
NM_000218.3(KCNQ1):c.420C>T (p.Ser140=) rs377520734 0.00001
NM_000218.3(KCNQ1):c.445G>A (p.Ala149Thr) rs1362690035 0.00001
NM_000218.3(KCNQ1):c.462G>A (p.Gly154=) rs759593218 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.477+4C>T rs763599970 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.478-7C>G rs372906106 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys) rs199473395 0.00001
NM_000218.3(KCNQ1):c.552C>T (p.Tyr184=) rs780231722 0.00001
NM_000218.3(KCNQ1):c.573G>T (p.Leu191=) rs764634277 0.00001
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys) rs775059928 0.00001
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) rs199472698 0.00001
NM_000218.3(KCNQ1):c.576C>T (p.Arg192=) rs762267954 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000218.3(KCNQ1):c.672G>A (p.Thr224=) rs550887954 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.684-5C>T rs1212611138 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys) rs199472713 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000218.3(KCNQ1):c.729C>T (p.Arg243=) rs755104170 0.00001
NM_000218.3(KCNQ1):c.757T>G (p.Ser253Ala) rs764781840 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.796C>A (p.Leu266Met) rs1263583359 0.00001
NM_000218.3(KCNQ1):c.802A>G (p.Ile268Val) rs757421492 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000218.3(KCNQ1):c.861G>A (p.Ala287=) rs764403483 0.00001
NM_000218.3(KCNQ1):c.867C>T (p.Asn289=) rs1262523905 0.00001
NM_000218.3(KCNQ1):c.880G>A (p.Val294Met) rs749073770 0.00001
NM_000218.3(KCNQ1):c.888C>T (p.Phe296=) rs768506433 0.00001
NM_000218.3(KCNQ1):c.897C>T (p.Tyr299=) rs373183513 0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186 0.00001
NM_000218.3(KCNQ1):c.939C>T (p.Ile313=) rs199472747 0.00001
NM_000218.3(KCNQ1):c.999T>G (p.Ser333=) rs769230282 0.00001
NM_000218.3(KCNQ1):c.*4G>A rs1157661362
NM_000218.3(KCNQ1):c.*6G>A rs1349244002
NM_000218.3(KCNQ1):c.*7del rs756899141
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.3(KCNQ1):c.1026C>G (p.Leu342=)
NM_000218.3(KCNQ1):c.1033-12A>C rs200423553
NM_000218.3(KCNQ1):c.1033-1_1117dup
NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs) rs1848574802
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.1070A>G (p.Gln357Arg) rs199473405
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1079G>A (p.Arg360Lys) rs199473407
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu) rs199473410
NM_000218.3(KCNQ1):c.1098G>A (p.Arg366=) rs1848576720
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.3(KCNQ1):c.1128+6G>A rs558595162
NM_000218.3(KCNQ1):c.1129-8G>A rs200612600
NM_000218.3(KCNQ1):c.1129-8G>T rs200612600
NM_000218.3(KCNQ1):c.1134A>G (p.Ala378=)
NM_000218.3(KCNQ1):c.1134A>T (p.Ala378=) rs2133758086
NM_000218.3(KCNQ1):c.1139G>A (p.Arg380Lys) rs1848609806
NM_000218.3(KCNQ1):c.1143C>G (p.Cys381Trp) rs1848610060
NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn) rs537637760
NM_000218.3(KCNQ1):c.1177A>G (p.Lys393Glu) rs1848611273
NM_000218.3(KCNQ1):c.1178A>T (p.Lys393Met) rs199472775
NM_000218.3(KCNQ1):c.1181T>C (p.Ile394Thr) rs1437113154
NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg) rs199472777
NM_000218.3(KCNQ1):c.1195G>T (p.Ala399Ser) rs571899254
NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly) rs876657836
NM_000218.3(KCNQ1):c.1196C>T (p.Ala399Val) rs876657836
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) rs397508082
NM_000218.3(KCNQ1):c.1211C>G (p.Thr404Ser) rs1490239200
NM_000218.3(KCNQ1):c.1213C>T (p.Leu405=) rs1848613138
NM_000218.3(KCNQ1):c.1220C>T (p.Ser407Leu)
NM_000218.3(KCNQ1):c.1224C>T (p.Pro408=) rs1342663112
NM_000218.3(KCNQ1):c.1248G>A (p.Val416=) rs1848613980
NM_000218.3(KCNQ1):c.1249G>A (p.Val417Met) rs267607197
NM_000218.3(KCNQ1):c.1251+2T>C rs794728528
NM_000218.3(KCNQ1):c.1251+3G>A rs1848614141
NM_000218.3(KCNQ1):c.1252-1G>A
NM_000218.3(KCNQ1):c.1252-3del rs12720450
NM_000218.3(KCNQ1):c.1252-3dup rs12720450
NM_000218.3(KCNQ1):c.1252-5T>C rs1848628616
NM_000218.3(KCNQ1):c.1252-8T>C rs761247239
NM_000218.3(KCNQ1):c.1256A>G (p.Lys419Arg) rs757328965
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.1266G>A (p.Lys422=) rs1589969380
NM_000218.3(KCNQ1):c.1284C>T (p.Asp428=) rs1848629586
NM_000218.3(KCNQ1):c.1290G>A (p.Gly430=) rs1848629909
NM_000218.3(KCNQ1):c.1290_1301del (p.Val431_Gly434del) rs750178990
NM_000218.3(KCNQ1):c.1291dup (p.Val431fs) rs397508085
NM_000218.3(KCNQ1):c.1301G>C (p.Gly434Ala)
NM_000218.3(KCNQ1):c.1303G>A (p.Glu435Lys) rs1848630440
NM_000218.3(KCNQ1):c.1320C>A (p.Val440=) rs781151116
NM_000218.3(KCNQ1):c.1320C>T (p.Val440=) rs781151116
NM_000218.3(KCNQ1):c.1330del (p.Thr444fs) rs1848631108
NM_000218.3(KCNQ1):c.1331C>A (p.Thr444Lys)
NM_000218.3(KCNQ1):c.1332G>T (p.Thr444=) rs144985256
NM_000218.3(KCNQ1):c.1338C>A (p.Asp446Glu) rs199472780
NM_000218.3(KCNQ1):c.1338C>G (p.Asp446Glu) rs199472780
NM_000218.3(KCNQ1):c.1340C>A (p.Pro447His) rs143149582
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln) rs12720449
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1348G>C (p.Glu450Gln)
NM_000218.3(KCNQ1):c.1354del (p.Arg452fs) rs2133760795
NM_000218.3(KCNQ1):c.1356del (p.Leu453fs) rs1848632145
NM_000218.3(KCNQ1):c.1374C>T (p.Val458=) rs778598703
NM_000218.3(KCNQ1):c.1387A>G (p.Ser463Gly) rs1848632977
NM_000218.3(KCNQ1):c.1393+1G>A
NM_000218.3(KCNQ1):c.1515-13C>G rs2133980915
NM_000218.3(KCNQ1):c.1515-3C>T rs1564886312
NM_000218.3(KCNQ1):c.1521G>A (p.Arg507=) rs2133980949
NM_000218.3(KCNQ1):c.1523A>G (p.Glu508Gly)
NM_000218.3(KCNQ1):c.1531C>T (p.Arg511Trp) rs199472785
NM_000218.3(KCNQ1):c.1539C>G (p.Thr513=) rs1846542304
NM_000218.3(KCNQ1):c.1583A>G (p.Lys528Arg) rs1846543781
NM_000218.3(KCNQ1):c.1590+2T>A rs2133981154
NM_000218.3(KCNQ1):c.1590G>A (p.Gln530=) rs1846543956
NM_000218.3(KCNQ1):c.1595C>T (p.Ala532Val) rs867549263
NM_000218.3(KCNQ1):c.1596G>T (p.Ala532=) rs558452873
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.3(KCNQ1):c.1632G>C (p.Gln544His)
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.3(KCNQ1):c.1640A>G (p.Gln547Arg) rs199472798
NM_000218.3(KCNQ1):c.1654C>A (p.Leu552Ile) rs780896003
NM_000218.3(KCNQ1):c.1660G>T (p.Val554Leu) rs794728533
NM_000218.3(KCNQ1):c.1662G>A (p.Val554=) rs533146777
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser) rs120074185
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.1689G>A (p.Leu563=)
NM_000218.3(KCNQ1):c.1697C>A (p.Ser566Tyr) rs199472804
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1707G>A (p.Lys569=) rs1288914203
NM_000218.3(KCNQ1):c.1713A>G (p.Ser571=) rs1846718527
NM_000218.3(KCNQ1):c.1720A>G (p.Ile574Val) rs761947465
NM_000218.3(KCNQ1):c.1721del (p.Ile574fs)
NM_000218.3(KCNQ1):c.1733-13T>C rs1846740433
NM_000218.3(KCNQ1):c.1733-4A>G rs1359690225
NM_000218.3(KCNQ1):c.1733-8C>T rs1341796131
NM_000218.3(KCNQ1):c.1733-9C>A rs897070017
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=) rs569971691
NM_000218.3(KCNQ1):c.1762A>G (p.Ile588Val) rs794728536
NM_000218.3(KCNQ1):c.1770C>A (p.Ala590=) rs1590082970
NM_000218.3(KCNQ1):c.1771C>T (p.Arg591Cys) rs199473483
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs) rs2133992401
NM_000218.3(KCNQ1):c.1795G>T (p.Val599Leu) rs1848361040
NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn) rs794728542
NM_000218.3(KCNQ1):c.1837C>T (p.Leu613Phe) rs767014889
NM_000218.3(KCNQ1):c.1846C>T (p.Leu616=)
NM_000218.3(KCNQ1):c.1858C>G (p.His620Asp) rs2134096944
NM_000218.3(KCNQ1):c.1863_1877dup (p.Gly626_Ser627insGlySerThrProGly) rs2134096959
NM_000218.3(KCNQ1):c.1871C>T (p.Thr624Ile)
NM_000218.3(KCNQ1):c.1875C>G (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.1876_1893del (p.Gly626_Pro631del) rs397508102
NM_000218.3(KCNQ1):c.1884C>G (p.Gly628=) rs769848998
NM_000218.3(KCNQ1):c.1892C>A (p.Pro631His) rs1432436411
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.1893del (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs) rs1464992494
NM_000218.3(KCNQ1):c.1911C>T (p.His637=) rs2134097230
NM_000218.3(KCNQ1):c.1916C>T (p.Thr639Ile)
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg) rs1410404016
NM_000218.3(KCNQ1):c.1926C>A (p.Cys642Ter) rs12720454
NM_000218.3(KCNQ1):c.1928G>A (p.Gly643Asp) rs1848367520
NM_000218.3(KCNQ1):c.1938C>A (p.Gly646=) rs184844767
NM_000218.3(KCNQ1):c.1951G>A (p.Glu651Lys) rs1848368295
NM_000218.3(KCNQ1):c.1956C>T (p.Leu652=)
NM_000218.3(KCNQ1):c.1960C>T (p.Leu654=) rs1848368654
NM_000218.3(KCNQ1):c.1968C>T (p.Ser656=) rs1848369004
NM_000218.3(KCNQ1):c.1970A>G (p.Asn657Ser) rs552087428
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.2028C>T (p.Ser676=) rs2134097716
NM_000218.3(KCNQ1):c.387-3C>T rs1460161223
NM_000218.3(KCNQ1):c.387-4G>T
NM_000218.3(KCNQ1):c.410T>C (p.Leu137Pro)
NM_000218.3(KCNQ1):c.426G>C (p.Leu142=)
NM_000218.3(KCNQ1):c.436G>A (p.Glu146Lys) rs199472688
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs) rs878854347
NM_000218.3(KCNQ1):c.465T>A (p.Thr155=) rs769788538
NM_000218.3(KCNQ1):c.477+4C>G rs763599970
NM_000218.3(KCNQ1):c.478-7C>T rs372906106
NM_000218.3(KCNQ1):c.478-8C>G rs150711844
NM_000218.3(KCNQ1):c.483C>T (p.Ile161=) rs146981549
NM_000218.3(KCNQ1):c.491T>C (p.Val164Ala) rs1848316801
NM_000218.3(KCNQ1):c.494T>C (p.Val165Ala) rs1848317004
NM_000218.3(KCNQ1):c.498C>T (p.Phe166=) rs1848317253
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.519C>A (p.Val173=) rs140857754
NM_000218.3(KCNQ1):c.531C>T (p.Ser177=) rs757713526
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu) rs749351255
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.3(KCNQ1):c.601A>G (p.Ile201Val)
NM_000218.3(KCNQ1):c.604+1G>A rs752670256
NM_000218.3(KCNQ1):c.605-14C>T rs1284195790
NM_000218.3(KCNQ1):c.628A>G (p.Met210Val) rs1848330783
NM_000218.3(KCNQ1):c.630G>A (p.Met210Ile) rs776811872
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.3(KCNQ1):c.653A>C (p.Lys218Thr) rs1848331549
NM_000218.3(KCNQ1):c.663G>A (p.Val221=) rs779859587
NM_000218.3(KCNQ1):c.678C>T (p.Ala226=) rs771489129
NM_000218.3(KCNQ1):c.682A>C (p.Arg228=)
NM_000218.3(KCNQ1):c.683+4C>T rs554698776
NM_000218.3(KCNQ1):c.684-4G>A rs750965939
NM_000218.3(KCNQ1):c.684-4G>T rs750965939
NM_000218.3(KCNQ1):c.685G>A (p.Gly229Ser)
NM_000218.3(KCNQ1):c.690C>A (p.Ile230=) rs751869667
NM_000218.3(KCNQ1):c.723C>T (p.Val241=) rs1358413257
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter) rs1554893091
NM_000218.3(KCNQ1):c.741C>T (p.Thr247=)
NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs) rs1221462654
NM_000218.3(KCNQ1):c.754G>A (p.Gly252Ser)
NM_000218.3(KCNQ1):c.774C>T (p.His258=) rs1848345991
NM_000218.3(KCNQ1):c.777C>T (p.Arg259=) rs1438923096
NM_000218.3(KCNQ1):c.780+6T>C rs1848346390
NM_000218.3(KCNQ1):c.780+7_780+15del
NM_000218.3(KCNQ1):c.804C>A (p.Ile268=) rs373227792
NM_000218.3(KCNQ1):c.825C>G (p.Phe275Leu)
NM_000218.3(KCNQ1):c.831G>A (p.Ser277=) rs761225039
NM_000218.3(KCNQ1):c.837T>C (p.Phe279=) rs2133732725
NM_000218.3(KCNQ1):c.839T>A (p.Val280Glu) rs199473462
NM_000218.3(KCNQ1):c.840G>T (p.Val280=) rs1554893236
NM_000218.3(KCNQ1):c.844C>G (p.Leu282Val) rs979241598
NM_000218.3(KCNQ1):c.852G>A (p.Glu284=) rs1271929222
NM_000218.3(KCNQ1):c.859G>A (p.Ala287Thr) rs765665086
NM_000218.3(KCNQ1):c.859G>T (p.Ala287Ser) rs765665086
NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val) rs199472735
NM_000218.3(KCNQ1):c.862G>A (p.Val288Met) rs946704016
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs) rs397508129
NM_000218.3(KCNQ1):c.873A>G (p.Ser291=) rs1848362899
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=) rs181106858
NM_000218.3(KCNQ1):c.879C>T (p.Arg293=) rs181106858
NM_000218.3(KCNQ1):c.898G>T (p.Ala300Ser) rs120074187
NM_000218.3(KCNQ1):c.906G>A (p.Ala302=) rs200762150
NM_000218.3(KCNQ1):c.906G>T (p.Ala302=) rs200762150
NM_000218.3(KCNQ1):c.918G>A (p.Gly306=)
NM_000218.3(KCNQ1):c.919G>A (p.Val307Met) rs120074195
NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile) rs199472745
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile) rs120074182
NM_000218.3(KCNQ1):c.936C>T (p.Thr312=) rs753939458
NM_000218.3(KCNQ1):c.954G>A (p.Lys318=)
NM_000218.3(KCNQ1):c.960C>T (p.Pro320=)
NM_000218.3(KCNQ1):c.970G>A (p.Val324Ile) rs1848536066
NM_000218.3(KCNQ1):c.970G>T (p.Val324Phe) rs1848536066
NM_000218.3(KCNQ1):c.986C>T (p.Ala329Val) rs200436951

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.