ClinVar Miner

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

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Gene type:
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Total variants: 152
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HGVS dbSNP
NM_000218.2(KCNQ1):c.139_145dup (p.Ala49fs) rs1554958049
NM_000218.2(KCNQ1):c.153C>G (p.Tyr51Ter) rs397508096
NM_000218.2(KCNQ1):c.176del (p.Pro59fs) rs1565023136
NM_000218.2(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.2(KCNQ1):c.2T>A (p.Met1Lys) rs199473485
NM_000218.2(KCNQ1):c.332A>G (p.Tyr111Cys) rs199472678
NM_000218.2(KCNQ1):c.343G>A (p.Glu115Lys) rs794728553
NM_000218.2(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000218.2(KCNQ1):c.365G>A (p.Cys122Tyr) rs199472681
NM_000218.2(KCNQ1):c.375C>A (p.Tyr125Ter) rs1222477763
NM_000218.2(KCNQ1):c.37A>T (p.Lys13Ter) rs794728544
NM_000218.2(KCNQ1):c.382_383dup (p.Val129fs) rs1554958132
NM_000218.2(KCNQ1):c.94A>T (p.Lys32Ter) rs1554958043
NM_181798.1(KCNQ1):c.107del (p.Leu36fs) rs397508112
NM_181798.1(KCNQ1):c.1134-2A>G rs794728573
NM_181798.1(KCNQ1):c.1141G>T (p.Glu381Ter) rs794728530
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1184A>C (p.Tyr395Ser) rs199472789
NM_181798.1(KCNQ1):c.1192G>A (p.Ala398Thr) rs120074188
NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) rs397508097
NM_181798.1(KCNQ1):c.121G>A (p.Gly41Arg) rs179489
NM_181798.1(KCNQ1):c.121G>C (p.Gly41Arg) rs179489
NM_181798.1(KCNQ1):c.1227C>A (p.Tyr409Ter) rs138551008
NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) rs199472795
NM_181798.1(KCNQ1):c.1256C>T (p.Ser419Leu) rs199473480
NM_181798.1(KCNQ1):c.1279G>A (p.Val427Met) rs794728533
NM_181798.1(KCNQ1):c.1282C>T (p.Arg428Cys) rs120074185
NM_181798.1(KCNQ1):c.1283G>A (p.Arg428His) rs199472800
NM_181798.1(KCNQ1):c.1288A>G (p.Lys430Glu) rs199472801
NM_181798.1(KCNQ1):c.1304+1G>A rs794728531
NM_181798.1(KCNQ1):c.1305-2A>G rs878854350
NM_181798.1(KCNQ1):c.1305G>T (p.Arg435Ser) rs794728535
NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr) rs199472805
NM_181798.1(KCNQ1):c.1321G>A (p.Gly441Arg) rs199472807
NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys) rs17221854
NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met) rs120074189
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.1391G>T (p.Arg464Leu) 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.1400G>A (p.Arg467Gln) rs199472815
NM_181798.1(KCNQ1):c.1406A>G (p.Glu469Gly) rs794728538
NM_181798.1(KCNQ1):c.1420C>T (p.Gln474Ter) rs794728540
NM_181798.1(KCNQ1):c.147G>A (p.Trp49Ter) rs876661350
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181798.1(KCNQ1):c.154G>A (p.Gly52Ser) rs199473394
NM_181798.1(KCNQ1):c.1644dup (p.Ser549fs) rs397508106
NM_181798.1(KCNQ1):c.170dup (p.Tyr57Ter) rs794728547
NM_181798.1(KCNQ1):c.176G>T (p.Gly59Val) rs794728568
NM_181798.1(KCNQ1):c.179T>C (p.Leu60Pro) rs199473399
NM_181798.1(KCNQ1):c.184G>A (p.Gly62Arg) rs104894252
NM_181798.1(KCNQ1):c.186dup (p.Arg63fs) rs397508117
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.188_201del (p.Arg63fs) rs794728556
NM_181798.1(KCNQ1):c.192_196del (p.Arg65fs) rs397508118
NM_181798.1(KCNQ1):c.194G>A (p.Arg65His) rs199472698
NM_181798.1(KCNQ1):c.204del (p.Lys69fs) rs397508120
NM_181798.1(KCNQ1):c.20T>C (p.Leu7Pro) rs199472685
NM_181798.1(KCNQ1):c.211A>G (p.Ile71Val) rs199472700
NM_181798.1(KCNQ1):c.223G>A (p.Asp75Asn) rs199472702
NM_181798.1(KCNQ1):c.224A>G (p.Asp75Gly) rs794728569
NM_181798.1(KCNQ1):c.232G>A (p.Val78Met) rs151344631
NM_181798.1(KCNQ1):c.276dup (p.Gln93fs) rs1554892994
NM_181798.1(KCNQ1):c.28C>T (p.Leu10Phe) rs199473450
NM_181798.1(KCNQ1):c.302+5G>A rs397508122
NM_181798.1(KCNQ1):c.305G>A (p.Gly102Asp) rs199472708
NM_181798.1(KCNQ1):c.310C>A (p.Arg104Ser) rs199473457
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.343G>A (p.Asp115Asn) rs199472712
NM_181798.1(KCNQ1):c.346C>T (p.Arg116Cys) rs199472713
NM_181798.1(KCNQ1):c.361T>C (p.Trp121Arg) rs199473459
NM_181798.1(KCNQ1):c.371T>C (p.Leu124Pro) rs199472716
NM_181798.1(KCNQ1):c.379G>A (p.Val127Met) rs120074179
NM_181798.1(KCNQ1):c.392A>G (p.His131Arg) rs199472718
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.395G>T (p.Arg132Leu) rs199472720
NM_181798.1(KCNQ1):c.400G>T (p.Glu134Ter) rs199472722
NM_181798.1(KCNQ1):c.413C>T (p.Thr138Ile) rs199472724
NM_181798.1(KCNQ1):c.415del (p.Leu139fs) rs397508125
NM_181798.1(KCNQ1):c.416T>C (p.Leu139Pro) rs199473460
NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) rs120074193
NM_181798.1(KCNQ1):c.424G>C (p.Gly142Arg) rs120074193
NM_181798.1(KCNQ1):c.425G>A (p.Gly142Asp) rs120074194
NM_181798.1(KCNQ1):c.425G>T (p.Gly142Val) rs120074194
NM_181798.1(KCNQ1):c.434G>A (p.Gly145Asp) rs199472726
NM_181798.1(KCNQ1):c.436C>T (p.Leu146Phe) rs120074180
NM_181798.1(KCNQ1):c.444_446CTC[1] (p.Ser150del) rs397508127
NM_181798.1(KCNQ1):c.449C>G (p.Ser150Trp) rs199472730
NM_181798.1(KCNQ1):c.449C>T (p.Ser150Leu) rs199472730
NM_181798.1(KCNQ1):c.44del (p.Leu15fs) rs794728566
NM_181798.1(KCNQ1):c.462C>A (p.Tyr154Ter) rs1057520623
NM_181798.1(KCNQ1):c.481_499del (p.Val161fs) rs397508129
NM_181798.1(KCNQ1):c.524C>A (p.Ala175Glu) rs193922365
NM_181798.1(KCNQ1):c.533G>A (p.Trp178Ter) rs120074186
NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) rs120074186
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.538_540+9del rs794728557
NM_181798.1(KCNQ1):c.540+1G>T rs397508130
NM_181798.1(KCNQ1):c.541-1G>A rs387906290
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.562T>C (p.Tyr188His) rs1554894448
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_181798.1(KCNQ1):c.565G>A (p.Gly189Arg) rs104894255
NM_181798.1(KCNQ1):c.565G>T (p.Gly189Trp) rs104894255
NM_181798.1(KCNQ1):c.568G>A (p.Asp190Asn) rs199472751
NM_181798.1(KCNQ1):c.573G>C (p.Lys191Asn) rs199472752
NM_181798.1(KCNQ1):c.577C>T (p.Pro193Ser) rs199472753
NM_181798.1(KCNQ1):c.580C>T (p.Gln194Ter) rs794728517
NM_181798.1(KCNQ1):c.583A>G (p.Thr195Ala) rs199472754
NM_181798.1(KCNQ1):c.584C>G (p.Thr195Arg) rs199472755
NM_181798.1(KCNQ1):c.584C>T (p.Thr195Met) rs199472755
NM_181798.1(KCNQ1):c.588G>A (p.Trp196Ter) rs794728567
NM_181798.1(KCNQ1):c.592G>A (p.Gly198Arg) rs199472756
NM_181798.1(KCNQ1):c.615_616CT[1] (p.Ser206fs) rs397508134
NM_181798.1(KCNQ1):c.627del (p.Ile210fs) rs397508067
NM_181798.1(KCNQ1):c.633_635CTT[1] (p.Phe213del) rs397508068
NM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser) rs199472759
NM_181798.1(KCNQ1):c.641C>A (p.Ala214Glu) rs12720459
NM_181798.1(KCNQ1):c.641C>G (p.Ala214Gly) rs12720459
NM_181798.1(KCNQ1):c.641C>T (p.Ala214Val) rs12720459
NM_181798.1(KCNQ1):c.643C>T (p.Leu215Phe) rs199472760
NM_181798.1(KCNQ1):c.650C>T (p.Ala217Val) rs199472763
NM_181798.1(KCNQ1):c.651G>A (p.Ala217=) rs1800171
NM_181798.1(KCNQ1):c.651G>C (p.Ala217=) rs1800171
NM_181798.1(KCNQ1):c.652-2A>C rs794728523
NM_181798.1(KCNQ1):c.652-2A>G rs794728523
NM_181798.1(KCNQ1):c.665C>G (p.Ser222Trp) rs199472765
NM_181798.1(KCNQ1):c.677T>C (p.Leu226Pro) rs199473403
NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter) rs397508072
NM_181798.1(KCNQ1):c.694C>T (p.Gln232Ter) rs397508075
NM_181798.1(KCNQ1):c.706C>A (p.His236Asn) rs199473408
NM_181798.1(KCNQ1):c.70_71del (p.Leu24fs) rs397508110
NM_181798.1(KCNQ1):c.715C>T (p.Arg239Trp) rs199473411
NM_181798.1(KCNQ1):c.716G>A (p.Arg239Gln) rs199473410
NM_181798.1(KCNQ1):c.743_746del (p.Ile248fs) rs397508077
NM_181798.1(KCNQ1):c.745C>T (p.Gln249Ter) rs1564825414
NM_181798.1(KCNQ1):c.794G>A (p.Trp265Ter) rs1060500629
NM_181798.1(KCNQ1):c.795G>A (p.Trp265Ter) rs794728572
NM_181798.1(KCNQ1):c.820dup (p.Arg274fs) rs397508082
NM_181798.1(KCNQ1):c.884del (p.Lys295fs) rs397508083
NM_181798.1(KCNQ1):c.955G>A (p.Asp319Asn) rs149089817
NM_181798.1(KCNQ1):c.96+1G>A rs762814879
NM_181798.1(KCNQ1):c.96+5G>A rs397508111
NM_181798.1(KCNQ1):c.962dup (p.Glu322fs) rs397508087
NM_181798.1(KCNQ1):c.974G>T (p.Arg325Leu) rs145229963

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