ClinVar Miner

List of variants in gene KCNQ1 reported as pathogenic by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Total variants: 8
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NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) rs151344631
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.204del (p.Lys69fs) rs397508120
NM_181798.1(KCNQ1):c.533G>A (p.Trp178Ter) rs120074186
NM_181798.1(KCNQ1):c.96+5G>A rs397508111

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