ClinVar Miner

List of variants in gene KCNQ1 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190 0.00006
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) rs151344631 0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 0.00003
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1590+1G>A rs767921776 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys) rs199472678 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.605A>G (p.Asp202Gly) rs794728569 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys) rs199472713 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) rs199472726 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186 0.00001
GRCh38/hg38 11p15.5(chr11:2454516-2461603)x1
NM_000218.3(KCNQ1):c.1008del (p.Ile337fs) rs397508067
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) rs397508068
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly) rs12720459
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.3(KCNQ1):c.1032G>C (p.Ala344=) rs1800171
NM_000218.3(KCNQ1):c.1033-2A>G rs794728523
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp) rs199472765
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1087C>A (p.His363Asn) rs199473408
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.1124_1127del (p.Ile375fs) rs397508077
NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter) rs1564825414
NM_000218.3(KCNQ1):c.1176G>A (p.Trp392Ter) rs794728572
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) rs397508082
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs) rs397508087
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu) rs145229963
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs) rs1554958049
NM_000218.3(KCNQ1):c.1515-2A>G rs794728573
NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter) rs794728530
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter) rs397508096
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly) rs199472790
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.3(KCNQ1):c.1608C>A (p.Tyr536Ter) rs138551008
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs) rs794728563
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1686G>T (p.Arg562Ser) rs794728535
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.1760C>T (p.Thr587Met) rs120074189
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.1787A>G (p.Glu596Gly) rs794728538
NM_000218.3(KCNQ1):c.1801C>T (p.Gln601Ter) rs794728540
NM_000218.3(KCNQ1):c.1842_1844del (p.His614del) rs397508101
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys) rs199473485
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000218.3(KCNQ1):c.365G>A (p.Cys122Tyr) rs199472681
NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter) rs1222477763
NM_000218.3(KCNQ1):c.37A>T (p.Lys13Ter) rs794728544
NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs) rs1554958132
NM_000218.3(KCNQ1):c.401T>C (p.Leu134Pro) rs199472685
NM_000218.3(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.3(KCNQ1):c.409C>T (p.Leu137Phe) rs199473450
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.3(KCNQ1):c.425del (p.Leu142fs) rs794728566
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs) rs397508110
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg) rs179489
NM_000218.3(KCNQ1):c.504del (p.Thr169fs) rs397508114
NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer) rs1589956565
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.551dup (p.Tyr184Ter) rs794728547
NM_000218.3(KCNQ1):c.557G>T (p.Gly186Val) rs794728568
NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs) rs397508117
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.569_582del (p.Arg190fs) rs794728556
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.3(KCNQ1):c.657dup (p.Gln220fs) rs1554892994
NM_000218.3(KCNQ1):c.683+1G>A rs1589957233
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp) rs199472708
NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser) rs199473457
NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer) rs1589957719
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.742T>C (p.Trp248Arg) rs199473459
NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro) rs199472716
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.773A>C (p.His258Pro) rs199472718
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu) rs199472720
NM_000218.3(KCNQ1):c.781G>T (p.Glu261Ter) rs199472722
NM_000218.3(KCNQ1):c.794C>T (p.Thr265Ile) rs199472724
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.3(KCNQ1):c.805G>C (p.Gly269Arg) rs120074193
NM_000218.3(KCNQ1):c.806G>T (p.Gly269Val) rs120074194
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe) rs120074180
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) rs397508126
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp) rs199472730
NM_000218.3(KCNQ1):c.843C>A (p.Tyr281Ter) rs1057520623
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs) rs397508129
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu) rs193922365
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg) rs120074181
NM_000218.3(KCNQ1):c.916G>C (p.Gly306Arg) rs120074181
NM_000218.3(KCNQ1):c.921+1G>T rs397508130
NM_000218.3(KCNQ1):c.922-1G>A rs387906290
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile) rs120074182
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp) rs199472748
NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His) rs1554894448
NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser) rs74462309
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.949G>A (p.Asp317Asn) rs199472751
NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter) rs1554958043
NM_000218.3(KCNQ1):c.961C>T (p.Gln321Ter) rs794728517
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) rs199472754
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.969G>A (p.Trp323Ter) rs794728567
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134

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