ClinVar Miner

List of variants in gene KCNQ1 reported as likely pathogenic by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

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Total variants: 4
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NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) rs199472804
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_181798.1(KCNQ1):c.651G>T (p.Ala217=) rs1800171

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