ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) rs199472804
NM_181798.1(KCNQ1):c.1321G>A (p.Gly441Arg) rs199472807
NM_181798.1(KCNQ1):c.139C>T (p.Arg47Cys) rs199472696
NM_181798.1(KCNQ1):c.293C>T (p.Ser98Leu) rs199473456
NM_181798.1(KCNQ1):c.376T>C (p.Ser126Pro) rs764781840
NM_181798.1(KCNQ1):c.415del (p.Leu139fs) rs397508125
NM_181798.1(KCNQ1):c.444_446CTC[1] (p.Ser150del) rs397508127
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_181798.1(KCNQ1):c.651G>T (p.Ala217=)

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