ClinVar Miner

List of variants in gene KCNE1 reported as pathogenic for Jervell and Lange-Nielsen syndrome 2

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Total variants: 6
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NM_000219.4:c.[172A>C;176T>C] rs281865421
NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter) rs758346045
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) rs28933384
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter) rs779124360
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) rs1244688796

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