ClinVar Miner

List of variants in gene KCNE1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.-50-129T>C rs2236609 0.63723
NM_000219.6(KCNE1):c.*1219A>G rs11909074 0.50320
NM_000219.6(KCNE1):c.*456C>T rs2070356 0.48073
NM_000219.6(KCNE1):c.*124A>G rs2070357 0.44827
NM_000219.6(KCNE1):c.-376-130A>T rs73900509 0.21552
NM_000219.6(KCNE1):c.-376-131G>C rs56115854 0.21548
NM_000219.6(KCNE1):c.-252G>A rs2834502 0.19962
NM_000219.6(KCNE1):c.*490G>C rs41314067 0.16321
NM_000219.6(KCNE1):c.*132A>G rs41314071 0.15224
NM_000219.6(KCNE1):c.*578T>C rs16991703 0.14679
NM_000219.6(KCNE1):c.*1322A>G rs11700621 0.13749
NM_000219.6(KCNE1):c.-253A>G rs41315471 0.02496
NM_000219.6(KCNE1):c.-162+68C>T rs41313001 0.02084
NM_000219.6(KCNE1):c.*2103C>T rs41312367 0.01957
NM_000219.6(KCNE1):c.*2098T>C rs41312993 0.01820
NM_000219.6(KCNE1):c.-375A>G rs41315349 0.01784
NM_000219.6(KCNE1):c.-50-288A>G rs2070358 0.01366
NM_000219.6(KCNE1):c.*268C>T rs41314807 0.01093
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000219.6(KCNE1):c.-50-59T>C rs2236608 0.00773
NM_000219.6(KCNE1):c.-50-60G>A rs76165549 0.00745
NM_000219.6(KCNE1):c.*1226_*1229del rs551512090 0.00693
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_000219.6(KCNE1):c.-162+24C>G rs41312971 0.00564
NM_000219.6(KCNE1):c.-100T>C rs41314819 0.00267
NM_000219.6(KCNE1):c.-50-57C>T rs74448880 0.00142
NM_000219.6(KCNE1):c.*30C>G rs150963475 0.00061
NM_000219.6(KCNE1):c.*196C>G rs76568182 0.00054
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.-198C>T rs376688699 0.00019
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.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.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.-162+12G>A rs933665274 0.00006
NM_000219.6(KCNE1):c.-3del rs397515878 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.95G>A (p.Arg32His) rs17857111 0.00005
NM_000219.6(KCNE1):c.-169G>A rs969370799 0.00004
NM_000219.6(KCNE1):c.222G>A (p.Ser74=) rs766767618 0.00004
NM_000219.6(KCNE1):c.-161-8A>G rs1064793158 0.00003
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.173C>T (p.Thr58Ile) rs747321794 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.174C>G (p.Thr58=) rs727503101 0.00002
NM_000219.6(KCNE1):c.220T>C (p.Ser74Pro) rs199473357 0.00002
NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu) rs780041404 0.00002
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.94C>T (p.Arg32Cys) rs200963514 0.00001
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NM_000219.6(KCNE1):c.*1547dup rs11373310
NM_000219.6(KCNE1):c.*1815A>G rs57555550
NM_000219.6(KCNE1):c.*2007= rs2211696
NM_000219.6(KCNE1):c.*2077GA[5] rs41314795
NM_000219.6(KCNE1):c.*2123G>A rs41314793
NM_000219.6(KCNE1):c.-118A>C rs1057523291
NM_000219.6(KCNE1):c.-128C>T rs1568844469
NM_000219.6(KCNE1):c.-161-566T>A rs7275915
NM_000219.6(KCNE1):c.-161-753T>A rs8127493
NM_000219.6(KCNE1):c.-161-753T>G rs8127493
NM_000219.6(KCNE1):c.-161-772A>C rs563675140
NM_000219.6(KCNE1):c.-161-875G>T rs114742950
NM_000219.6(KCNE1):c.-161-881T>C rs191629273
NM_000219.6(KCNE1):c.-161-91A>G rs187207470
NM_000219.6(KCNE1):c.-161-997dup rs74162058
NM_000219.6(KCNE1):c.-162+13G>A rs540473636
NM_000219.6(KCNE1):c.-351G>A rs186628880
NM_000219.6(KCNE1):c.-50-128G>A rs35811057
NM_000219.6(KCNE1):c.-50-156G>A rs41314809
NM_000219.6(KCNE1):c.-51+1G>A rs1202906696
NM_000219.6(KCNE1):c.-51+3036G>A rs9977060
NM_000219.6(KCNE1):c.-51+3457dup rs11427854
NM_000219.6(KCNE1):c.-51+3471del rs11427854
NM_000219.6(KCNE1):c.-51+3491C>T rs2123472982
NM_000219.6(KCNE1):c.-51+71A>G rs41312379
NM_000219.6(KCNE1):c.106C>T (p.Arg36Cys) rs372398235
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.12dup (p.Asn5Ter) rs1131691762
NM_000219.6(KCNE1):c.163G>C (p.Gly55Arg) rs199473644
NM_000219.6(KCNE1):c.189G>A (p.Leu63=) rs1057521237
NM_000219.6(KCNE1):c.193T>C (p.Tyr65His)
NM_000219.6(KCNE1):c.199C>A (p.Arg67Ser) rs199473645
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.200G>T (p.Arg67Leu) rs79654911
NM_000219.6(KCNE1):c.211C>G (p.Leu71Val) rs1980991765
NM_000219.6(KCNE1):c.214G>A (p.Glu72Lys) rs2123457997
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.283G>A (p.Val95Ile) rs772405174
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000219.6(KCNE1):c.292del (p.Arg98fs) rs1555843717
NM_000219.6(KCNE1):c.32C>G (p.Pro11Arg) rs771981567
NM_000219.6(KCNE1):c.42C>T (p.Thr14=) rs1057524440
NM_000219.6(KCNE1):c.86G>A (p.Gly29Asp) rs1555844239

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