ClinVar Miner

List of variants in gene KCNQ1 reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) rs199472706 0.00011
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
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.1032+1G>A rs397508070 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) rs368507376 0.00001
NM_000218.3(KCNQ1):c.1252-1G>C rs1848628661 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.343G>A (p.Glu115Lys) rs794728553 0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 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.643G>A (p.Val215Met) rs17215479 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.698T>C (p.Leu233Pro) rs780236727 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.827C>T (p.Ser276Phe) rs794728514 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000218.3(KCNQ1):c.1009A>T (p.Ile337Phe) rs794728520
NM_000218.3(KCNQ1):c.1029_1031dup (p.Ala344_Gly345insAla) rs794728559
NM_000218.3(KCNQ1):c.1030G>A (p.Ala344Thr) rs1554894481
NM_000218.3(KCNQ1):c.1031C>G (p.Ala344Gly) rs199472763
NM_000218.3(KCNQ1):c.1033-2A>C rs794728523
NM_000218.3(KCNQ1):c.1033G>A (p.Gly345Arg) rs199473471
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp) rs199472765
NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val) rs794728524
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1076A>C (p.Gln359Pro) rs1085307965
NM_000218.3(KCNQ1):c.1078A>T (p.Arg360Trp) rs199473406
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu) rs199473410
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.3(KCNQ1):c.1128+1G>T rs397508078
NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg) rs199472774
NM_000218.3(KCNQ1):c.1178A>T (p.Lys393Met) rs199472775
NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter) rs1554958047
NM_000218.3(KCNQ1):c.1250dup (p.Val418fs) rs2133758591
NM_000218.3(KCNQ1):c.1251+2T>C rs794728528
NM_000218.3(KCNQ1):c.1257del (p.Lys422fs) rs1554895166
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.3(KCNQ1):c.1545G>T (p.Lys515Asn) rs794728532
NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser) rs120074185
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.1697C>A (p.Ser566Tyr) rs199472804
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1699A>T (p.Ile567Phe) rs1846717292
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr) rs794728576
NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu) rs199472814
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.3(KCNQ1):c.1781G>T (p.Arg594Leu)
NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs) rs2134097007
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.1894dup (p.Arg632fs) rs397508105
NM_000218.3(KCNQ1):c.2025dup (p.Ser676fs) rs397508106
NM_000218.3(KCNQ1):c.20del (p.Pro7fs) rs1554958030
NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter)
NM_000218.3(KCNQ1):c.373T>G (p.Tyr125Asp) rs794728578
NM_000218.3(KCNQ1):c.374A>G (p.Tyr125Cys) rs1131691513
NM_000218.3(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro) rs1589931156
NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs) rs1064795333
NM_000218.3(KCNQ1):c.477+5G>C rs397508111
NM_000218.3(KCNQ1):c.496TTC[1] (p.Phe167del) rs794728555
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) rs199472697
NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs) rs763462603
NM_000218.3(KCNQ1):c.526T>C (p.Trp176Arg) rs1554892900
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.536G>C (p.Gly179Ala) rs76737438
NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His) rs199473661
NM_000218.3(KCNQ1):c.550T>G (p.Tyr184Asp) rs199473661
NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys) rs199473398
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) rs530612385
NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg) rs104894252
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.580G>C (p.Ala194Pro) rs199472699
NM_000218.3(KCNQ1):c.589C>T (p.Pro197Ser) rs794728510
NM_000218.3(KCNQ1):c.603_604+9del rs794728580
NM_000218.3(KCNQ1):c.622del (p.Ala208fs) rs1064794538
NM_000218.3(KCNQ1):c.647del (p.Gly216fs)
NM_000218.3(KCNQ1):c.679A>C (p.Ile227Leu) rs794728511
NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs) rs1589957697
NM_000218.3(KCNQ1):c.701A>C (p.Gln234Pro) rs794728570
NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro) rs794728512
NM_000218.3(KCNQ1):c.707T>G (p.Leu236Arg) rs794728512
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu) rs1589957756
NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs) rs1564820786
NM_000218.3(KCNQ1):c.757T>C (p.Ser253Pro) rs764781840
NM_000218.3(KCNQ1):c.758C>T (p.Ser253Phe) rs794728513
NM_000218.3(KCNQ1):c.773A>G (p.His258Arg) rs199472718
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.781G>C (p.Glu261Gln) rs199472722
NM_000218.3(KCNQ1):c.797T>A (p.Leu266Gln)
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.821T>A (p.Ile274Asn)
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.911G>C (p.Trp304Ser) rs2133733048
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter)
NM_000218.3(KCNQ1):c.919_921+9del rs794728557
NM_000218.3(KCNQ1):c.921G>A (p.Val307=) rs397508131
NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile) rs199472745
NM_000218.3(KCNQ1):c.950A>G (p.Asp317Gly) rs199472750
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000218.3(KCNQ1):c.974G>A (p.Gly325Glu) rs794728519
NM_001406838.1(KCNQ1):c.478-12807_478-12805del rs2133726899

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