ClinVar Miner

List of variants in gene KCNE1 studied for Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5

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Total variants: 41
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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.84G>A (p.Ser28=) rs17173510 0.00676
NM_000219.6(KCNE1):c.-334G>A rs891779914 0.00041
NM_000219.6(KCNE1):c.-530G>A rs886057027 0.00019
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) rs79654911 0.00019
NM_000219.6(KCNE1):c.83C>T (p.Ser28Leu) rs199473350 0.00019
NM_000219.6(KCNE1):c.*2475A>G rs913676929 0.00017
NM_000219.6(KCNE1):c.238G>A (p.Val80Ile) rs769368494 0.00016
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) rs199473348 0.00011
NM_000219.6(KCNE1):c.*1447C>G rs886057020 0.00010
NM_000219.6(KCNE1):c.*1859G>A rs754021039 0.00010
NM_000219.6(KCNE1):c.95G>A (p.Arg32His) rs17857111 0.00005
NM_000219.6(KCNE1):c.*457G>A rs886057024 0.00003
NM_000219.6(KCNE1):c.109A>G (p.Ser37Gly) rs202036483 0.00003
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) rs199473644 0.00003
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) rs199473360 0.00003
NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln) rs150454912 0.00003
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe) rs75610894 0.00002
NM_000219.6(KCNE1):c.236A>G (p.Asn79Ser) rs1422163809 0.00002
NM_000219.6(KCNE1):c.80T>C (p.Met27Thr) rs749957298 0.00002
NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp) rs758961135 0.00001
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) rs74315446 0.00001
NM_000219.6(KCNE1):c.246C>T (p.Ile82=) rs555086287 0.00001
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NM_000219.6(KCNE1):c.*1542G>A rs1448578468
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*1701A>G rs886057017
NM_000219.6(KCNE1):c.*2298C>G rs896302148
NM_000219.6(KCNE1):c.*2320G>T rs745512218
NM_000219.6(KCNE1):c.*2413T>A rs747442476
NM_000219.6(KCNE1):c.*960C>T rs544365018
NM_000219.6(KCNE1):c.-376-8A>T
NM_000219.6(KCNE1):c.108_109delinsGG (p.Ser37Gly) rs886044294
NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)
NM_000219.6(KCNE1):c.120C>T (p.Gly40=) rs756778741
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000219.6(KCNE1):c.191G>T (p.Ser64Ile) rs1382168637
NM_000219.6(KCNE1):c.199C>A (p.Arg67Ser) rs199473645
NM_000219.6(KCNE1):c.199C>G (p.Arg67Gly) rs199473645
NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln) rs1568836235

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