ClinVar Miner

List of variants in gene KCNE1 reported as likely pathogenic

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794 0.00003
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NM_000219.6(KCNE1):c.106dup (p.Arg36fs)
NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del) rs1568836457
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.20_23dup (p.Val9fs) rs2123459914
NM_000219.6(KCNE1):c.217C>T (p.His73Tyr) rs1064793159
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs) rs1555843898
NM_000219.6(KCNE1):c.262C>T (p.Gln88Ter) rs750349088
NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter) rs1568835906
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000219.6(KCNE1):c.31_118del (p.Pro11fs) rs1981025573

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