ClinVar Miner

List of variants in gene KCNE1 reported by Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust

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Gene type:
ClinVar version:
Total variants: 35
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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.374C>T (p.Thr125Met) rs142511345 0.00027
NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg) rs149338401 0.00024
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 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.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) rs199473348 0.00011
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000219.6(KCNE1):c.95G>A (p.Arg32His) rs17857111 0.00005
NM_000219.6(KCNE1):c.107G>A (p.Arg36His) rs199473351 0.00003
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) rs199473644 0.00003
NM_000219.6(KCNE1):c.172A>C (p.Thr58Pro) rs147187721 0.00003
NM_000219.6(KCNE1):c.176T>C (p.Leu59Pro) rs141813529 0.00003
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) rs199473360 0.00003
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) rs74315446 0.00001
NM_000219.6(KCNE1):c.242A>G (p.Tyr81Cys) rs199473359 0.00001
NM_000219.6(KCNE1):c.115G>A (p.Asp39Asn) rs199473352
NM_000219.6(KCNE1):c.139G>T (p.Val47Phe) rs199473353
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg) rs199473354
NM_000219.6(KCNE1):c.155G>C (p.Gly52Ala) rs17173509
NM_000219.6(KCNE1):c.158T>C (p.Phe53Ser) rs199473355
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.202T>A (p.Ser68Thr) rs199473393
NM_000219.6(KCNE1):c.209A>T (p.Lys70Met) rs199473646
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) rs28933384
NM_000219.6(KCNE1):c.210G>C (p.Lys70Asn) rs199473356
NM_000219.6(KCNE1):c.220T>G (p.Ser74Ala) rs199473357
NM_000219.6(KCNE1):c.235A>G (p.Asn79Asp) rs199473358
NM_000219.6(KCNE1):c.242A>T (p.Tyr81Phe) rs199473359
NM_000219.6(KCNE1):c.259T>C (p.Trp87Arg) rs199473361
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000219.6(KCNE1):c.379C>A (p.Pro127Thr) rs199473647
NM_000219.6(KCNE1):c.59C>T (p.Thr20Ile) rs199473349

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