ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NC_000011.10:g.2445471T>A
NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr) rs199472805
NM_181798.1(KCNQ1):c.227T>C (p.Leu76Pro) rs199472823
NM_181798.1(KCNQ1):c.643C>T (p.Leu215Phe) rs199472760
NM_181798.1(KCNQ1):c.668G>T (p.Gly223Val) rs794728524
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.86T>C (p.Leu29Pro)

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