ClinVar Miner

List of variants in gene KCNQ1 reported as likely pathogenic for congenital heart disease

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) rs199472706 0.00011
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796 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.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 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.1252-1G>C rs1848628661 0.00001
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln) rs574321120 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.287C>G (p.Thr96Arg) rs1337409061 0.00001
NM_000218.3(KCNQ1):c.386+16231G>A rs1490391959 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 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.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly) rs368011737 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.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) rs199472726 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000218.3(KCNQ1):c.944A>T (p.Tyr315Phe) rs74462309 0.00001
NC_000011.10:g.(?_2587560)_(2587702_?)del
NC_000011.9:g.(?_2549138)_(2610104_?)dup
NC_000011.9:g.(?_2591838)_(2610104_?)dup
NC_000011.9:g.(?_2790054)_(2799287_?)dup
NM_000218.3(KCNQ1):c.1013C>T (p.Ser338Phe) rs199472758
NM_000218.3(KCNQ1):c.1015T>C (p.Phe339Leu)
NM_000218.3(KCNQ1):c.1016T>A (p.Phe339Tyr) rs199472759
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu) rs2133750942
NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu)
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly) rs12720459
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.3(KCNQ1):c.1032+1_1129-1del
NM_000218.3(KCNQ1):c.1032+2T>C rs1848538318
NM_000218.3(KCNQ1):c.1032+5G>A rs397508071
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=) rs1800171
NM_000218.3(KCNQ1):c.1033-2A>C rs794728523
NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro) rs199472764
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.1051T>C (p.Phe351Leu) rs779383393
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1100A>G (p.Gln367Arg) rs2133754743
NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His) rs199473663
NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu) rs775362401
NM_000218.3(KCNQ1):c.1111G>C (p.Ala371Pro) rs199473412
NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu) rs1848577150
NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter)
NM_000218.3(KCNQ1):c.1120C>T (p.Leu374Phe)
NM_000218.3(KCNQ1):c.1128+2T>A rs2133754863
NM_000218.3(KCNQ1):c.1166C>T (p.Ser389Phe)
NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs) rs1848613169
NM_000218.3(KCNQ1):c.1252-2A>C rs771458482
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1278del (p.Asp426fs) rs1848629484
NM_000218.3(KCNQ1):c.1515-2_1515-1del rs1564886323
NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter) rs794728530
NM_000218.3(KCNQ1):c.1524del (p.Glu508fs) rs1564886349
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly) rs17215500
NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys)
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu)
NM_000218.3(KCNQ1):c.1591-1G>A rs1590081328
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1685+2T>G rs1590081467
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met) rs199472802
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1686-9T>C rs1846716158
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.1691A>G (p.Asp564Gly) rs1554920808
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.1702G>C (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1732+1G>A rs1846719993
NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg) rs120074189
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.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.3(KCNQ1):c.1794+1G>A
NM_000218.3(KCNQ1):c.1794+2_1794+5del rs1846743506
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr) rs147445322
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.248del (p.Pro83fs)
NM_000218.3(KCNQ1):c.321G>T (p.Gln107His) rs1554958092
NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser)
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro) rs199473448
NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr) rs886037906
NM_000218.3(KCNQ1):c.349C>T (p.Pro117Ser) rs886037906
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu) rs120074191
NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser)
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn) rs794728578
NM_000218.3(KCNQ1):c.386+1G>T rs2133560406
NM_000218.3(KCNQ1):c.386+2T>G
NM_000218.3(KCNQ1):c.387-1G>C
NM_000218.3(KCNQ1):c.387-5T>A rs794728549
NM_000218.3(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.3(KCNQ1):c.425del (p.Leu142fs) rs794728566
NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro) rs1589931156
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.503G>A (p.Gly168Glu)
NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg) rs199472693
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs)
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) rs199472697
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg)
NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His) rs199473661
NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer) rs1848319796
NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser) rs199473398
NM_000218.3(KCNQ1):c.556G>C (p.Gly186Arg) rs199473398
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro) rs120074178
NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly) rs199473442
NM_000218.3(KCNQ1):c.603_604+9del rs794728580
NM_000218.3(KCNQ1):c.605-1G>A rs1564820372
NM_000218.3(KCNQ1):c.605-1G>C rs1564820372
NM_000218.3(KCNQ1):c.605-2A>G rs2133728692
NM_000218.3(KCNQ1):c.612C>G (p.Ile204Met) rs199473455
NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp) rs199473456
NM_000218.3(KCNQ1):c.683+1G>A rs1589957233
NM_000218.3(KCNQ1):c.683+2T>G rs796052166
NM_000218.3(KCNQ1):c.684-2A>C rs1564820729
NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe) rs199956744
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.727C>A (p.Arg243Ser) rs199472713
NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu)
NM_000218.3(KCNQ1):c.742T>C (p.Trp248Arg) rs199473459
NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln) rs199472716
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs) rs2133730742
NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro) rs199472720
NM_000218.3(KCNQ1):c.780+1G>A rs1564820836
NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys) rs199472722
NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln)
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro) rs1564821090
NM_000218.3(KCNQ1):c.785T>G (p.Leu262Arg) rs1564821090
NM_000218.3(KCNQ1):c.794C>A (p.Thr265Asn) rs199472724
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.817C>A (p.Leu273Ile)
NM_000218.3(KCNQ1):c.817C>G (p.Leu273Val)
NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro) rs199472727
NM_000218.3(KCNQ1):c.818T>G (p.Leu273Arg) rs199472727
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) rs397508126
NM_000218.3(KCNQ1):c.826del (p.Ser276fs) rs786204778
NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp) rs199472730
NM_000218.3(KCNQ1):c.839T>A (p.Val280Glu) rs199473462
NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala)
NM_000218.3(KCNQ1):c.845T>C (p.Leu282Pro) rs199472733
NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro) rs1060500627
NM_000218.3(KCNQ1):c.848C>G (p.Ala283Gly) rs199473463
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser) rs199472738
NM_000218.3(KCNQ1):c.908T>C (p.Leu303Pro) rs199472740
NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly)
NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu)
NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys)
NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile) rs199472745
NM_000218.3(KCNQ1):c.932C>T (p.Thr311Ile) rs199472746
NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser) rs1554894445
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp) rs199472748
NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn) rs1554894448
NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His) rs1554894448
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg) rs104894255
NM_000218.3(KCNQ1):c.946G>T (p.Gly316Trp) rs104894255
NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala)
NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala) rs199472750
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.3(KCNQ1):c.959C>G (p.Pro320Arg)
NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu) rs199473470
NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro) rs199472754
NM_000218.3(KCNQ1):c.965C>A (p.Thr322Lys) rs199472755
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.973G>T (p.Gly325Trp) rs199472756
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134
NM_001406838.1(KCNQ1):c.478-12807del rs1848316236

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