ClinVar Miner

List of variants in gene KCNQ1 reported as pathogenic by Fulgent Genetics

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Total variants: 5
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097
NM_000218.2(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795
NM_000218.2(KCNQ1):c.692G>A (p.Arg231His) rs199472709
NM_000218.2(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193

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