ClinVar Miner

List of variants in gene KCNQ1 reported as pathogenic by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

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Total variants: 3
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg) rs199472768
NM_000218.2(KCNQ1):c.502G>C (p.Gly168Arg) rs179489
NM_000218.2(KCNQ1):c.919_921+9del rs794728557

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