ClinVar Miner

List of variants in gene KCNQ1 studied for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 459
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
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.-5T>C rs532941548 0.00267
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
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.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.105C>A (p.Pro35=) rs968695655 0.00042
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.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000218.3(KCNQ1):c.1926C>T (p.Cys642=) rs12720454 0.00016
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
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.1152C>T (p.Ala384=) rs144615901 0.00009
NM_000218.3(KCNQ1):c.1323C>T (p.Pro441=) rs145452045 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.136G>A (p.Ala46Thr) rs199473671 0.00007
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.1766G>A (p.Gly589Asp) rs120074190 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.225T>C (p.Val75=) rs367817352 0.00006
NM_000218.3(KCNQ1):c.351C>T (p.Pro117=) rs764872490 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.197C>A (p.Ser66Tyr) rs199473446 0.00005
NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu) rs199472735 0.00005
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.1905G>A (p.Gly635=) rs1003639764 0.00004
NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) rs771921468 0.00004
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094 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.613G>A (p.Val205Met) rs151344631 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.1548C>T (p.Val516=) rs748073960 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.1656C>T (p.Leu552=) rs745675388 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.2016C>T (p.Pro672=) rs751946698 0.00003
NM_000218.3(KCNQ1):c.233A>C (p.Asp78Ala) rs1846021008 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.675G>A (p.Ser225=) rs148566141 0.00003
NM_000218.3(KCNQ1):c.683+3G>A rs1025802726 0.00003
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 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.1128+5G>A rs76735093 0.00002
NM_000218.3(KCNQ1):c.1252G>A (p.Val418Ile) rs777347006 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.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000218.3(KCNQ1):c.1827C>T (p.Ile609=) rs377553748 0.00002
NM_000218.3(KCNQ1):c.187C>T (p.Pro63Ser) rs1280717988 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.345G>A (p.Glu115=) rs758960211 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.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000218.3(KCNQ1):c.1011C>T (p.Ile337=) rs794728521 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.1032+1G>A rs397508070 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 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.1131C>T (p.Thr377=) rs763723387 0.00001
NM_000218.3(KCNQ1):c.1132G>A (p.Ala378Thr) rs756571615 0.00001
NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) rs368507376 0.00001
NM_000218.3(KCNQ1):c.1161C>T (p.Pro387=) rs772078282 0.00001
NM_000218.3(KCNQ1):c.1185C>T (p.Tyr395=) rs764870839 0.00001
NM_000218.3(KCNQ1):c.1190G>A (p.Arg397Gln) rs374090960 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.1281A>G (p.Lys427=) rs763197403 0.00001
NM_000218.3(KCNQ1):c.1286A>G (p.Asn429Ser) rs1464968488 0.00001
NM_000218.3(KCNQ1):c.1335C>T (p.Cys445=) rs890238618 0.00001
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) rs149089817 0.00001
NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys) rs148266527 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.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.1615C>T (p.Arg539Trp) rs199472795 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.1728C>T (p.Val576=) rs144363041 0.00001
NM_000218.3(KCNQ1):c.177A>G (p.Pro59=) rs1403467559 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.1806G>A (p.Leu602=) rs991680454 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.189C>G (p.Pro63=) rs1398693672 0.00001
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu) rs939431028 0.00001
NM_000218.3(KCNQ1):c.1941C>T (p.Ser647=) rs1386852977 0.00001
NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) rs776119582 0.00001
NM_000218.3(KCNQ1):c.222A>G (p.Pro74=) rs1380003005 0.00001
NM_000218.3(KCNQ1):c.267G>A (p.Pro89=) rs907132030 0.00001
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg) rs1337409061 0.00001
NM_000218.3(KCNQ1):c.297G>C (p.Pro99=) rs778702162 0.00001
NM_000218.3(KCNQ1):c.301T>C (p.Leu101=) rs1186850886 0.00001
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys) rs199472678 0.00001
NM_000218.3(KCNQ1):c.411C>T (p.Leu137=) rs1035435122 0.00001
NM_000218.3(KCNQ1):c.420C>T (p.Ser140=) rs377520734 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 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.521G>A (p.Arg174His) rs199472697 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.559C>T (p.Leu187Phe) rs1282771390 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.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.612C>T (p.Ile204=) rs199473455 0.00001
NM_000218.3(KCNQ1):c.64G>C (p.Gly22Arg) rs794728545 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.698T>C (p.Leu233Pro) rs780236727 0.00001
NM_000218.3(KCNQ1):c.70C>T (p.Arg24Trp) rs990778345 0.00001
NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) rs199956744 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.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) rs199472726 0.00001
NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe) rs794728514 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000218.3(KCNQ1):c.867C>T (p.Asn289=) rs1262523905 0.00001
NM_000218.3(KCNQ1):c.870G>A (p.Glu290=) rs1438599984 0.00001
NM_000218.3(KCNQ1):c.897C>T (p.Tyr299=) rs373183513 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 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.985G>A (p.Ala329Thr) rs543428644 0.00001
NM_000218.3(KCNQ1):c.999T>G (p.Ser333=) rs769230282 0.00001
NM_000218.3(KCNQ1):c.-3G>A
NM_000218.3(KCNQ1):c.-3G>C
NM_000218.3(KCNQ1):c.-4C>A
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) rs397508068
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1021G>A (p.Ala341Thr)
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.3(KCNQ1):c.1025T>A (p.Leu342His) rs794728522
NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser) rs199472762
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.3(KCNQ1):c.1032+3A>G
NM_000218.3(KCNQ1):c.1033-1_1117dup
NM_000218.3(KCNQ1):c.1035G>T (p.Gly345=)
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp) rs199472765
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.1073A>C (p.Lys358Thr)
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.107dup (p.Ser37fs)
NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter) rs794728571
NM_000218.3(KCNQ1):c.1089C>T (p.His363=) rs1589967006
NM_000218.3(KCNQ1):c.1095C>T (p.Asn365=) rs1589967022
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu) rs199473410
NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter)
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) rs397508077
NM_000218.3(KCNQ1):c.1128+2T>A rs2133754863
NM_000218.3(KCNQ1):c.1128+5G>C
NM_000218.3(KCNQ1):c.1138A>G (p.Arg380Gly) rs199472770
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) rs199472771
NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn) rs537637760
NM_000218.3(KCNQ1):c.1165TCC[3] (p.Ser390_Thr391insSer) rs1064793160
NM_000218.3(KCNQ1):c.1171A>C (p.Thr391Pro)
NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg) rs199472777
NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly) rs876657836
NM_000218.3(KCNQ1):c.1197C>T (p.Ala399=)
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) rs397508082
NM_000218.3(KCNQ1):c.1211C>T (p.Thr404Ile)
NM_000218.3(KCNQ1):c.1248G>A (p.Val416=) rs1848613980
NM_000218.3(KCNQ1):c.1250dup (p.Val418fs) rs2133758591
NM_000218.3(KCNQ1):c.1252-3dup rs12720450
NM_000218.3(KCNQ1):c.1259A>G (p.Lys420Arg)
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
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.1319_1337dup (p.Glu449fs)
NM_000218.3(KCNQ1):c.1320C>A (p.Val440=) rs781151116
NM_000218.3(KCNQ1):c.1327A>G (p.Ile443Val) rs1848631038
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.1343del (p.Pro448fs) rs397508087
NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu) rs145229963
NM_000218.3(KCNQ1):c.1356del (p.Leu453fs) rs1848632145
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.3(KCNQ1):c.1515G>A (p.Gln505=)
NM_000218.3(KCNQ1):c.152A>G (p.Tyr51Cys)
NM_000218.3(KCNQ1):c.1537A>G (p.Thr513Ala)
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter) rs397508096
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.3(KCNQ1):c.1578G>T (p.Lys526Asn) rs1554919483
NM_000218.3(KCNQ1):c.1591-4G>T rs555518358
NM_000218.3(KCNQ1):c.1595C>T (p.Ala532Val) rs867549263
NM_000218.3(KCNQ1):c.159C>T (p.Pro53=) rs1057520456
NM_000218.3(KCNQ1):c.1603C>A (p.Pro535Thr) rs2133989242
NM_000218.3(KCNQ1):c.160ATCGCGCCC[3] (p.Pro56_Gly57insIleAlaProIleAlaPro)
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.3(KCNQ1):c.1660del (p.Val554fs) rs794728561
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.3(KCNQ1):c.1670A>G (p.Lys557Arg)
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1685+3G>A
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser)
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.168C>G (p.Pro56=) rs2133559703
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1703G>A (p.Gly568Glu)
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala) rs199472806
NM_000218.3(KCNQ1):c.1720A>G (p.Ile574Val) rs761947465
NM_000218.3(KCNQ1):c.1724C>T (p.Ser575Phe)
NM_000218.3(KCNQ1):c.172G>A (p.Ala58Thr)
NM_000218.3(KCNQ1):c.1738A>G (p.Ser580Gly)
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=) rs569971691
NM_000218.3(KCNQ1):c.174C>T (p.Ala58=)
NM_000218.3(KCNQ1):c.175C>G (p.Pro59Ala) rs1554958059
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.3(KCNQ1):c.1768G>C (p.Ala590Pro) rs199472813
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.3(KCNQ1):c.1779C>G (p.Asn593Lys) rs1421636319
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.3(KCNQ1):c.1785AGA[1] (p.Glu596del)
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs) rs2133992401
NM_000218.3(KCNQ1):c.1794+2T>C
NM_000218.3(KCNQ1):c.1794+3A>T
NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=) rs794728539
NM_000218.3(KCNQ1):c.1795-2A>G rs867564993
NM_000218.3(KCNQ1):c.1819G>T (p.Ala607Ser)
NM_000218.3(KCNQ1):c.1822C>G (p.Leu608Val) rs1554932663
NM_000218.3(KCNQ1):c.1826T>A (p.Ile609Asn)
NM_000218.3(KCNQ1):c.183C>T (p.Pro61=)
NM_000218.3(KCNQ1):c.1841A>T (p.His614Leu)
NM_000218.3(KCNQ1):c.1846C>T (p.Leu616=)
NM_000218.3(KCNQ1):c.1857G>A (p.Leu619=)
NM_000218.3(KCNQ1):c.1862G>A (p.Gly621Asp) rs1590130205
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.1887C>T (p.Gly629=) rs749068909
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.1908C>G (p.Ala636=)
NM_000218.3(KCNQ1):c.1922C>T (p.Pro641Leu)
NM_000218.3(KCNQ1):c.1923C>T (p.Pro641=)
NM_000218.3(KCNQ1):c.192_221del (p.Ala65_Pro74del) rs781335353
NM_000218.3(KCNQ1):c.1938C>A (p.Gly646=) rs184844767
NM_000218.3(KCNQ1):c.1956C>T (p.Leu652=)
NM_000218.3(KCNQ1):c.195G>T (p.Ala65=)
NM_000218.3(KCNQ1):c.1962G>A (p.Leu654=)
NM_000218.3(KCNQ1):c.1962G>C (p.Leu654=)
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.1987G>A (p.Glu663Lys)
NM_000218.3(KCNQ1):c.1990C>T (p.Gln664Ter)
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.2022G>A (p.Glu674=)
NM_000218.3(KCNQ1):c.2023G>A (p.Gly675Arg)
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1]) rs397508107
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3]) rs397508107
NM_000218.3(KCNQ1):c.2030G>A (p.Ter677=)
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.209C>T (p.Pro70Leu)
NM_000218.3(KCNQ1):c.221dup (p.Val75fs)
NM_000218.3(KCNQ1):c.222A>C (p.Pro74=)
NM_000218.3(KCNQ1):c.228C>T (p.Ala76=)
NM_000218.3(KCNQ1):c.231C>T (p.Ser77=)
NM_000218.3(KCNQ1):c.249G>T (p.Pro83=) rs760371519
NM_000218.3(KCNQ1):c.275C>G (p.Ser92Cys) rs752170852
NM_000218.3(KCNQ1):c.293G>A (p.Arg98His)
NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.3(KCNQ1):c.306G>A (p.Ala102=) rs761591068
NM_000218.3(KCNQ1):c.30C>G (p.Ala10=)
NM_000218.3(KCNQ1):c.315C>T (p.His105=)
NM_000218.3(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro) rs199473448
NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly) rs199472679
NM_000218.3(KCNQ1):c.354C>T (p.Thr118=)
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs) rs1554958132
NM_000218.3(KCNQ1):c.383C>T (p.Ala128Val)
NM_000218.3(KCNQ1):c.396C>T (p.Ile132=) rs1400426641
NM_000218.3(KCNQ1):c.420C>A (p.Ser140Arg)
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.3(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.3(KCNQ1):c.465T>G (p.Thr155=)
NM_000218.3(KCNQ1):c.467T>G (p.Leu156Arg)
NM_000218.3(KCNQ1):c.478G>A (p.Glu160Lys) rs199473453
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg) rs179489
NM_000218.3(KCNQ1):c.504G>A (p.Gly168=)
NM_000218.3(KCNQ1):c.504del (p.Thr169fs) rs397508114
NM_000218.3(KCNQ1):c.510del (p.Glu170fs) rs1554892895
NM_000218.3(KCNQ1):c.511T>C (p.Tyr171His) rs1848317948
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.521G>C (p.Arg174Pro) rs199472697
NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs) rs763462603
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.534C>T (p.Ala178=) rs1848319199
NM_000218.3(KCNQ1):c.542G>A (p.Arg181His)
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) rs199473397
NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu) rs749351255
NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys) rs199473398
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) rs530612385
NM_000218.3(KCNQ1):c.566G>C (p.Gly189Ala)
NM_000218.3(KCNQ1):c.567G>C (p.Gly189=)
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
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.581C>T (p.Ala194Val) rs2133727494
NM_000218.3(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.3(KCNQ1):c.586A>C (p.Lys196Gln) rs1589956747
NM_000218.3(KCNQ1):c.597C>G (p.Ser199=)
NM_000218.3(KCNQ1):c.598A>G (p.Ile200Val)
NM_000218.3(KCNQ1):c.605-2A>G rs2133728692
NM_000218.3(KCNQ1):c.605-5C>T
NM_000218.3(KCNQ1):c.629T>C (p.Met210Thr) rs886038994
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.3(KCNQ1):c.675G>C (p.Ser225=) rs148566141
NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val) rs199472707
NM_000218.3(KCNQ1):c.683+4C>T rs554698776
NM_000218.3(KCNQ1):c.684-4G>A rs750965939
NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu) rs199472709
NM_000218.3(KCNQ1):c.701A>G (p.Gln234Arg) rs794728570
NM_000218.3(KCNQ1):c.702G>A (p.Gln234=)
NM_000218.3(KCNQ1):c.713_719del (p.Met238fs)
NM_000218.3(KCNQ1):c.716T>C (p.Leu239Pro) rs199473458
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu) rs1589957756
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter) rs1554893091
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.760G>T (p.Val254Leu) rs120074179
NM_000218.3(KCNQ1):c.774C>T (p.His258=) rs1848345991
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu) rs199472720
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg) rs199473460
NM_000218.3(KCNQ1):c.800A>T (p.Tyr267Phe) rs886039033
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe) rs120074180
NM_000218.3(KCNQ1):c.828C>T (p.Ser276=)
NM_000218.3(KCNQ1):c.831G>A (p.Ser277=) rs761225039
NM_000218.3(KCNQ1):c.840G>T (p.Val280=) rs1554893236
NM_000218.3(KCNQ1):c.843C>T (p.Tyr281=)
NM_000218.3(KCNQ1):c.847G>T (p.Ala283Ser)
NM_000218.3(KCNQ1):c.848C>T (p.Ala283Val)
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
NM_000218.3(KCNQ1):c.850_852del (p.Glu284del) rs1064796353
NM_000218.3(KCNQ1):c.851A>G (p.Glu284Gly) rs1848362105
NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val) rs199472735
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs) rs397508129
NM_000218.3(KCNQ1):c.86G>T (p.Gly29Val)
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.889G>C (p.Gly297Arg) rs34320941
NM_000218.3(KCNQ1):c.894C>A (p.Ser298Arg)
NM_000218.3(KCNQ1):c.902A>T (p.Asp301Val) rs1554893260
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu) rs193922365
NM_000218.3(KCNQ1):c.909G>A (p.Leu303=)
NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter)
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.919del (p.Val307fs) rs2133733071
NM_000218.3(KCNQ1):c.921+1G>T rs397508130
NM_000218.3(KCNQ1):c.921G>A (p.Val307=) rs397508131
NM_000218.3(KCNQ1):c.922-3C>A rs794728515
NM_000218.3(KCNQ1):c.931del (p.Thr311fs)
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile) rs120074182
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000218.3(KCNQ1):c.940G>C (p.Gly314Arg) rs120074184
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp) rs199472748
NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser) rs74462309
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.3(KCNQ1):c.949G>A (p.Asp317Asn) rs199472751
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.3(KCNQ1):c.960C>T (p.Pro320=)
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) rs199472754
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg) rs199472755
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000218.3(KCNQ1):c.970G>T (p.Val324Phe) rs1848536066
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000218.3(KCNQ1):c.989C>A (p.Ser330Tyr)
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134

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