ClinVar Miner

List of variants in gene KCNE1 reported by Ambry Genetics

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Gene type:
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Total variants: 76
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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.374C>T (p.Thr125Met) rs142511345 0.00027
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.118G>A (p.Gly40Ser) rs778439872 0.00018
NM_000219.6(KCNE1):c.238G>A (p.Val80Ile) rs769368494 0.00016
NM_000219.6(KCNE1):c.111C>T (p.Ser37=) rs150458884 0.00015
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000219.6(KCNE1):c.8T>C (p.Leu3Pro) rs567021150 0.00013
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) rs199473348 0.00011
NM_000219.6(KCNE1):c.225C>T (p.Asn75=) rs79175878 0.00009
NM_000219.6(KCNE1):c.252C>T (p.Ser84=) rs138884514 0.00007
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000219.6(KCNE1):c.-3del rs397515878 0.00006
NM_000219.6(KCNE1):c.138C>T (p.Tyr46=) rs758346045 0.00006
NM_000219.6(KCNE1):c.-5C>A rs191334763 0.00005
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile) rs199473353 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000219.6(KCNE1):c.24G>A (p.Ala8=) rs144094344 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005
NM_000219.6(KCNE1):c.315G>A (p.Ser105=) rs563859144 0.00005
NM_000219.6(KCNE1):c.222G>A (p.Ser74=) rs766767618 0.00004
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) rs199473644 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.297C>G (p.Val99=) rs780553669 0.00003
NM_000219.6(KCNE1):c.117C>T (p.Asp39=) rs368465967 0.00002
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe) rs75610894 0.00002
NM_000219.6(KCNE1):c.174C>G (p.Thr58=) rs727503101 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.375G>A (p.Thr125=) rs767686634 0.00002
NM_000219.6(KCNE1):c.9G>A (p.Leu3=) rs868666103 0.00002
NM_000219.6(KCNE1):c.242A>G (p.Tyr81Cys) rs199473359 0.00001
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299 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.111_112inv (p.Ser38Gly)
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.120C>T (p.Gly40=) rs756778741
NM_000219.6(KCNE1):c.123G>C (p.Lys41Asn) rs763754260
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000219.6(KCNE1):c.140T>C (p.Val47Ala)
NM_000219.6(KCNE1):c.148G>A (p.Val50Ile)
NM_000219.6(KCNE1):c.153G>T (p.Leu51=)
NM_000219.6(KCNE1):c.191G>T (p.Ser64Ile) rs1382168637
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
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.255T>C (p.Asp85=)
NM_000219.6(KCNE1):c.265G>A (p.Glu89Lys)
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.292C>T (p.Arg98Trp) rs199473362
NM_000219.6(KCNE1):c.315G>C (p.Ser105=)
NM_000219.6(KCNE1):c.335A>G (p.His112Arg) rs1352531511
NM_000219.6(KCNE1):c.341C>T (p.Ala114Val)
NM_000219.6(KCNE1):c.343A>G (p.Ile115Val)
NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala) rs1235182008
NM_000219.6(KCNE1):c.37C>T (p.Leu13=) rs919327457
NM_000219.6(KCNE1):c.48G>A (p.Leu16=)
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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