ClinVar Miner

List of variants in gene KCNQ1 reported by Stanford Center for Inherited Cardiovascular Disease,Stanford University

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Total variants: 47
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.2(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.2(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763
NM_000218.2(KCNQ1):c.1033G>A (p.Gly345Arg) rs199473471
NM_000218.2(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.2(KCNQ1):c.1105C>G (p.Pro369Ala) rs794728525
NM_000218.2(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.2(KCNQ1):c.1175G>A (p.Trp392Ter) rs1060500629
NM_000218.2(KCNQ1):c.1257del (p.Lys422fs) rs1554895166
NM_000218.2(KCNQ1):c.1321C>T (p.Pro441Ser) rs199473475
NM_000218.2(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.2(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671
NM_000218.2(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.2(KCNQ1):c.1537A>T (p.Thr513Ser) rs778975231
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.2(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.2(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813
NM_000218.2(KCNQ1):c.176del (p.Pro59fs) rs1565023136
NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.2(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.2(KCNQ1):c.332A>G (p.Tyr111Cys) rs199472678
NM_000218.2(KCNQ1):c.458C>T (p.Thr153Met) rs143709408
NM_000218.2(KCNQ1):c.484G>A (p.Val162Met) rs199472692
NM_000218.2(KCNQ1):c.502G>A (p.Gly168Arg) rs179489
NM_000218.2(KCNQ1):c.521G>A (p.Arg174His) rs199472697
NM_000218.2(KCNQ1):c.528G>A (p.Trp176Ter) rs876661350
NM_000218.2(KCNQ1):c.565G>A (p.Gly189Arg) rs104894252
NM_000218.2(KCNQ1):c.569G>A (p.Arg190Gln) 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.585del (p.Lys196fs) rs397508120
NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.2(KCNQ1):c.692G>A (p.Arg231His) rs199472709
NM_000218.2(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.2(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187
NM_000218.2(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.2(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.2(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756

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