ClinVar Miner

List of variants in gene KCNQ1 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP
NC_000011.9:g.(?_2591858)_(2594216_?)del
NC_000011.9:g.(?_2608790)_(2608932_?)del
NM_000218.2(KCNQ1):c.1009A>T (p.Ile337Phe) rs794728520
NM_000218.2(KCNQ1):c.1013C>T (p.Ser338Phe) rs199472758
NM_000218.2(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.2(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.2(KCNQ1):c.1029_1031dup (p.Ala344dup) rs794728559
NM_000218.2(KCNQ1):c.1030G>A (p.Ala344Thr) rs1554894481
NM_000218.2(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.2(KCNQ1):c.1031C>G (p.Ala344Gly) rs199472763
NM_000218.2(KCNQ1):c.1032+1G>A rs397508070
NM_000218.2(KCNQ1):c.1032G>T (p.Ala344=)
NM_000218.2(KCNQ1):c.1033G>A (p.Gly345Arg) rs199473471
NM_000218.2(KCNQ1):c.1049G>T (p.Gly350Val) rs794728524
NM_000218.2(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.2(KCNQ1):c.1076A>C (p.Gln359Pro) rs1085307965
NM_000218.2(KCNQ1):c.1078A>T (p.Arg360Trp) rs199473406
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.2(KCNQ1):c.1123A>T (p.Ile375Phe) rs794728526
NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg) rs199472768
NM_000218.2(KCNQ1):c.1140G>T (p.Arg380Ser) rs199472771
NM_000218.2(KCNQ1):c.1142G>A (p.Cys381Tyr) rs368507376
NM_000218.2(KCNQ1):c.1178A>T (p.Lys393Met) rs199472775
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1190G>A (p.Arg397Gln) rs374090960
NM_000218.2(KCNQ1):c.124G>T (p.Glu42Ter) rs1554958047
NM_000218.2(KCNQ1):c.1251+2T>C rs794728528
NM_000218.2(KCNQ1):c.1257del (p.Lys422fs) rs1554895166
NM_000218.2(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.2(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.2(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.2(KCNQ1):c.1515-2_1515-1delAG rs1564886323
NM_000218.2(KCNQ1):c.1522G>T (p.Glu508Ter) rs794728530
NM_000218.2(KCNQ1):c.1524del (p.Glu508fs) rs1564886349
NM_000218.2(KCNQ1):c.1545G>T (p.Lys515Asn) rs794728532
NM_000218.2(KCNQ1):c.1552C>G (p.Arg518Gly) rs17215500
NM_000218.2(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.2(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.2(KCNQ1):c.1571T>G (p.Val524Gly) rs199472790
NM_000218.2(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.2(KCNQ1):c.1591-1G>A
NM_000218.2(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1663C>A (p.Arg555Ser) rs120074185
NM_000218.2(KCNQ1):c.1664G>A (p.Arg555His) rs199472800
NM_000218.2(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.2(KCNQ1):c.1682G>A (p.Arg561Lys) rs794728534
NM_000218.2(KCNQ1):c.1685+1G>A rs794728531
NM_000218.2(KCNQ1):c.1685+2T>G
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1686delG rs794728562
NM_000218.2(KCNQ1):c.1691A>G (p.Asp564Gly) rs1554920808
NM_000218.2(KCNQ1):c.1697C>A (p.Ser566Tyr) rs199472804
NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.2(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.2(KCNQ1):c.1702G>C (p.Gly568Arg)
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854
NM_000218.2(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.2(KCNQ1):c.1763T>C (p.Ile588Thr) rs794728576
NM_000218.2(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813
NM_000218.2(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.2(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.2(KCNQ1):c.1894dup (p.Arg632fs) rs397508105
NM_000218.2(KCNQ1):c.20del (p.Pro7fs) rs1554958030
NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.2(KCNQ1):c.321G>T (p.Gln107His) rs1554958092
NM_000218.2(KCNQ1):c.349C>T (p.Pro117Ser) rs886037906
NM_000218.2(KCNQ1):c.373T>G (p.Tyr125Asp) rs794728578
NM_000218.2(KCNQ1):c.374A>G (p.Tyr125Cys) rs1131691513
NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000218.2(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.2(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.2(KCNQ1):c.425del (p.Leu142fs) rs794728566
NM_000218.2(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.2(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959
NM_000218.2(KCNQ1):c.464_465CT[2] (p.Phe157fs) rs1064795333
NM_000218.2(KCNQ1):c.477+5G>C rs397508111
NM_000218.2(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.2(KCNQ1):c.496_498TTC[1] (p.Phe167del) rs794728555
NM_000218.2(KCNQ1):c.521G>A (p.Arg174His) rs199472697
NM_000218.2(KCNQ1):c.521G>T (p.Arg174Leu) rs199472697
NM_000218.2(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.2(KCNQ1):c.526T>C (p.Trp176Arg) rs1554892900
NM_000218.2(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.2(KCNQ1):c.536G>C (p.Gly179Ala) rs76737438
NM_000218.2(KCNQ1):c.550T>C (p.Tyr184His) rs199473661
NM_000218.2(KCNQ1):c.550T>G (p.Tyr184Asp) rs199473661
NM_000218.2(KCNQ1):c.556G>T (p.Gly186Cys) rs199473398
NM_000218.2(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.2(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000218.2(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.2(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.2(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632
NM_000218.2(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.2(KCNQ1):c.589C>T (p.Pro197Ser) rs794728510
NM_000218.2(KCNQ1):c.5C>G (p.Ala2Gly) rs199473442
NM_000218.2(KCNQ1):c.603_604+9delCGGTGAGTCAT rs794728580
NM_000218.2(KCNQ1):c.605-1G>C rs1564820372
NM_000218.2(KCNQ1):c.608T>C (p.Leu203Pro) rs199472823
NM_000218.2(KCNQ1):c.612C>G (p.Ile204Met) rs199473455
NM_000218.2(KCNQ1):c.622del (p.Ala208fs) rs1064794538
NM_000218.2(KCNQ1):c.642C>A (p.Cys214Ter) rs775479779
NM_000218.2(KCNQ1):c.671C>T (p.Thr224Met) rs199472706
NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.2(KCNQ1):c.679A>C (p.Ile227Leu) rs794728511
NM_000218.2(KCNQ1):c.683+1G>A
NM_000218.2(KCNQ1):c.683+2T>G rs796052166
NM_000218.2(KCNQ1):c.684-2A>C rs1564820729
NM_000218.2(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457
NM_000218.2(KCNQ1):c.692G>T (p.Arg231Leu) rs199472709
NM_000218.2(KCNQ1):c.707T>C (p.Leu236Pro) rs794728512
NM_000218.2(KCNQ1):c.707T>G (p.Leu236Arg) rs794728512
NM_000218.2(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.2(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
NM_000218.2(KCNQ1):c.757T>C (p.Ser253Pro) rs764781840
NM_000218.2(KCNQ1):c.758C>T (p.Ser253Phe) rs794728513
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.2(KCNQ1):c.760G>T (p.Val254Leu) rs120074179
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.2(KCNQ1):c.776G>A (p.Arg259His) rs199472720
NM_000218.2(KCNQ1):c.781G>C (p.Glu261Gln) rs199472722
NM_000218.2(KCNQ1):c.785T>C (p.Leu262Pro) rs1564821090
NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.2(KCNQ1):c.797T>G (p.Leu266Arg) rs199473460
NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000218.2(KCNQ1):c.826del (p.Ser276fs) rs786204778
NM_000218.2(KCNQ1):c.827C>T (p.Ser276Phe) rs794728514
NM_000218.2(KCNQ1):c.830C>G (p.Ser277Trp) rs199472730
NM_000218.2(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730
NM_000218.2(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
NM_000218.2(KCNQ1):c.850_852del (p.Glu284del) rs1064796353
NM_000218.2(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187
NM_000218.2(KCNQ1):c.902A>T (p.Asp301Val) rs1554893260
NM_000218.2(KCNQ1):c.905C>T (p.Ala302Val) rs193922365
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.2(KCNQ1):c.919_921+9del rs794728557
NM_000218.2(KCNQ1):c.921G>A (p.Val307=) rs397508131
NM_000218.2(KCNQ1):c.922-2A>G
NM_000218.2(KCNQ1):c.928G>A (p.Val310Ile) rs199472745
NM_000218.2(KCNQ1):c.934A>T (p.Thr312Ser) rs1554894445
NM_000218.2(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.2(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000218.2(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000218.2(KCNQ1):c.974G>A (p.Gly325Glu) rs794728519

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