ClinVar Miner

List of variants in gene KCNQ1 studied for Long QT syndrome 1

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Total variants: 91
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HGVS dbSNP
KCNQ1, 3-BP DEL
NM_000218.2(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671
NM_000218.2(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443
NM_000218.2(KCNQ1):c.202_210GCCGCGCCC[1] (p.68_70AAP[1]) rs397508107
NM_000218.2(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676
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.350C>T (p.Pro117Leu) rs120074191
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.2(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000218.2(KCNQ1):c.5C>G (p.Ala2Gly) rs199473442
NM_000218.2(KCNQ1):c.[1249G>A;760G>A]
NM_181798.1(KCNQ1):c.107del (p.Leu36fs) rs397508112
NM_181798.1(KCNQ1):c.1160T>C (p.Ile387Thr) rs199472786
NM_181798.1(KCNQ1):c.1171C>G (p.Arg391Gly) rs17215500
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1216C>T (p.Arg406Trp) rs199472793
NM_181798.1(KCNQ1):c.121G>A (p.Gly41Arg) rs179489
NM_181798.1(KCNQ1):c.1229_1233dup (p.Arg412fs) rs1554920580
NM_181798.1(KCNQ1):c.1235G>A (p.Arg412Gln) rs199472794
NM_181798.1(KCNQ1):c.1282C>T (p.Arg428Cys) rs120074185
NM_181798.1(KCNQ1):c.1304+1G>A rs794728531
NM_181798.1(KCNQ1):c.1304+2T>C
NM_181798.1(KCNQ1):c.1305-2A>G rs878854350
NM_181798.1(KCNQ1):c.1310A>G (p.Asp437Gly) rs1554920808
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) rs199472804
NM_181798.1(KCNQ1):c.1322G>C (p.Gly441Ala) rs199472806
NM_181798.1(KCNQ1):c.1328C>T (p.Pro443Leu)
NM_181798.1(KCNQ1):c.132C>A (p.Tyr44Ter) rs139042529
NM_181798.1(KCNQ1):c.1352-1G>C rs878854348
NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys) rs17221854
NM_181798.1(KCNQ1):c.1381A>T (p.Ile461Phe) rs794728536
NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) rs120074190
NM_181798.1(KCNQ1):c.1391G>A (p.Arg464His) rs199472814
NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter) rs794728537
NM_181798.1(KCNQ1):c.139C>T (p.Arg47Cys) rs199472696
NM_181798.1(KCNQ1):c.142C>T (p.Leu48Phe) rs1131692322
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.1495G>A (p.Gly499Ser) rs199472821
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.151G>C (p.Ala51Pro) rs120074177
NM_181798.1(KCNQ1):c.152delinsGG (p.Ala51fs) rs397508115
NM_181798.1(KCNQ1):c.154G>A (p.Gly52Ser) rs199473394
NM_181798.1(KCNQ1):c.1589A>G (p.Asn530Ser) rs552087428
NM_181798.1(KCNQ1):c.1615A>C (p.Thr539Pro) rs1564916586
NM_181798.1(KCNQ1):c.175G>A (p.Gly59Ser) rs199473398
NM_181798.1(KCNQ1):c.176G>A (p.Gly59Asp) rs794728568
NM_181798.1(KCNQ1):c.184G>A (p.Gly62Arg) rs104894252
NM_181798.1(KCNQ1):c.188G>A (p.Arg63Gln) rs120074178
NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu) rs120074178
NM_181798.1(KCNQ1):c.232G>A (p.Val78Met) rs151344631
NM_181798.1(KCNQ1):c.310C>T (p.Arg104Cys) rs199473457
NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) rs199472709
NM_181798.1(KCNQ1):c.377C>G (p.Ser126Cys) rs794728513
NM_181798.1(KCNQ1):c.379G>A (p.Val127Met) rs120074179
NM_181798.1(KCNQ1):c.394C>T (p.Arg132Cys) rs199472719
NM_181798.1(KCNQ1):c.395G>A (p.Arg132His) rs199472720
NM_181798.1(KCNQ1):c.415del (p.Leu139fs) rs397508125
NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) rs120074193
NM_181798.1(KCNQ1):c.425G>A (p.Gly142Asp) rs120074194
NM_181798.1(KCNQ1):c.436C>T (p.Leu146Phe) rs120074180
NM_181798.1(KCNQ1):c.440_442TCT[1] (p.Phe148del) rs397508126
NM_181798.1(KCNQ1):c.444_446CTC[1] (p.Ser150del) rs397508127
NM_181798.1(KCNQ1):c.44del (p.Leu15fs) rs794728566
NM_181798.1(KCNQ1):c.496C>T (p.Arg166Cys) rs199472737
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187
NM_181798.1(KCNQ1):c.524C>T (p.Ala175Val) rs193922365
NM_181798.1(KCNQ1):c.533G>T (p.Trp178Leu) rs120074186
NM_181798.1(KCNQ1):c.535G>A (p.Gly179Arg) rs120074181
NM_181798.1(KCNQ1):c.541-1G>C rs387906290
NM_181798.1(KCNQ1):c.553A>T (p.Thr185Ser) rs1554894445
NM_181798.1(KCNQ1):c.554C>T (p.Thr185Ile) rs120074182
NM_181798.1(KCNQ1):c.559G>A (p.Gly187Ser) rs120074184
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_181798.1(KCNQ1):c.62del (p.Tyr21fs) rs878854347
NM_181798.1(KCNQ1):c.635T>A (p.Phe212Tyr) rs199472759
NM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser) rs199472759
NM_181798.1(KCNQ1):c.637_639del (p.Phe213del) rs397508069
NM_181798.1(KCNQ1):c.641C>A (p.Ala214Glu) rs12720459
NM_181798.1(KCNQ1):c.641C>T (p.Ala214Val) rs12720459
NM_181798.1(KCNQ1):c.651G>A (p.Ala217=) rs1800171
NM_181798.1(KCNQ1):c.653G>A (p.Gly218Glu) rs120074183
NM_181798.1(KCNQ1):c.670T>C (p.Phe224Leu) rs779383393
NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter) rs397508072
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.715C>T (p.Arg239Trp) rs199473411
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_181798.1(KCNQ1):c.944del (p.His315fs) rs1135401944
NM_181798.1(KCNQ1):c.96+1G>A rs762814879
NM_181798.1(KCNQ1):c.96+5G>A rs397508111

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