ClinVar Miner

List of variants in gene KCNE1 reported as uncertain significance by Ambry Genetics

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Total variants: 37
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HGVS dbSNP gnomAD frequency
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.238G>A (p.Val80Ile) rs769368494 0.00016
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) rs199473348 0.00011
NM_000219.6(KCNE1):c.-3del rs397515878 0.00006
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794 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.273C>G (p.Asp91Glu) rs146614850 0.00002
NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu) rs780041404 0.00002
NM_000219.6(KCNE1):c.242A>G (p.Tyr81Cys) rs199473359 0.00001
NM_000219.6(KCNE1):c.94C>T (p.Arg32Cys) rs200963514 0.00001
NM_000219.6(KCNE1):c.106C>T (p.Arg36Cys) rs372398235
NM_000219.6(KCNE1):c.108_109delinsGG (p.Ser37Gly) rs886044294
NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp) rs1064795410
NM_000219.6(KCNE1):c.113G>A (p.Ser38Asn) rs1057522990
NM_000219.6(KCNE1):c.123G>C (p.Lys41Asn) rs763754260
NM_000219.6(KCNE1):c.140T>C (p.Val47Ala)
NM_000219.6(KCNE1):c.148G>A (p.Val50Ile)
NM_000219.6(KCNE1):c.191G>T (p.Ser64Ile) rs1382168637
NM_000219.6(KCNE1):c.205A>G (p.Lys69Glu)
NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln) rs1568836235
NM_000219.6(KCNE1):c.221C>G (p.Ser74Trp) rs74315446
NM_000219.6(KCNE1):c.244A>G (p.Ile82Val)
NM_000219.6(KCNE1):c.246C>G (p.Ile82Met)
NM_000219.6(KCNE1):c.247_248delinsAC (p.Glu83Thr)
NM_000219.6(KCNE1):c.268A>G (p.Lys90Glu)
NM_000219.6(KCNE1):c.280T>C (p.Tyr94His)
NM_000219.6(KCNE1):c.287A>G (p.Gln96Arg) rs767972997
NM_000219.6(KCNE1):c.335A>G (p.His112Arg) rs1352531511
NM_000219.6(KCNE1):c.341C>T (p.Ala114Val)
NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala) rs1235182008
NM_000219.6(KCNE1):c.66G>T (p.Gln22His)
NM_000219.6(KCNE1):c.91G>A (p.Ala31Thr)
NM_000219.6(KCNE1):c.92C>T (p.Ala31Val)

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