ClinVar Miner

List of variants in gene KCNE1 reported as pathogenic for Long QT syndrome

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) rs74315446 0.00001
NC_000021.8:g.(?_35821543)_(35821932_?)del
NM_000219.6(KCNE1):c.106dup (p.Arg36fs)
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg) rs199473354
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.1A>T (p.Met1Leu) rs2123460074
NM_000219.6(KCNE1):c.202_205del (p.Ser68fs) rs1555843953
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs) rs1555843898
NM_000219.6(KCNE1):c.230del (p.Pro77fs) rs2123457833
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) rs1244688796

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