ClinVar Miner

List of variants in gene KCNQ1 reported as pathogenic by Integrated Genetics/Laboratory Corporation of America

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Total variants: 12
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1124_1127del (p.Ile375fs) rs397508077
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795
NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.2(KCNQ1):c.502G>A (p.Gly168Arg) rs179489
NM_000218.2(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696
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.613G>A (p.Val205Met) rs151344631
NM_000218.2(KCNQ1):c.727C>T (p.Arg243Cys) rs199472713
NM_000218.2(KCNQ1):c.905C>T (p.Ala302Val) rs193922365
NM_000218.2(KCNQ1):c.949G>A (p.Asp317Asn) rs199472751

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