ClinVar Miner

List of variants in gene KCNE1 studied for Long QT syndrome

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Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.*1219A>G rs11909074 0.50320
NM_000219.5(KCNE1):c.-577C>T rs11702354 0.23004
NM_000219.6(KCNE1):c.-50-288A>G rs2070358 0.01366
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000219.6(KCNE1):c.*1226_*1229del rs551512090 0.00693
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_000219.5(KCNE1):c.-628A>G rs76210431 0.00186
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.118G>A (p.Gly40Ser) rs778439872 0.00018
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.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_000219.5(KCNE1):c.-605G>A rs780282543 0.00008
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.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_000219.5(KCNE1):c.-561C>T rs886057028 0.00004
NM_000219.6(KCNE1):c.127G>A (p.Glu43Lys) rs755781709 0.00004
NM_000219.6(KCNE1):c.222G>A (p.Ser74=) rs766767618 0.00004
NM_000219.6(KCNE1):c.*457G>A rs886057024 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.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.324C>T (p.Val108=) rs200684060 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.220T>C (p.Ser74Pro) rs199473357 0.00002
NM_000219.6(KCNE1):c.236A>G (p.Asn79Ser) rs1422163809 0.00002
NM_000219.6(KCNE1):c.273C>G (p.Asp91Glu) rs146614850 0.00002
NM_000219.6(KCNE1):c.298C>T (p.Leu100=) rs140643047 0.00002
NM_000219.6(KCNE1):c.312G>A (p.Arg104=) rs746628151 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.4A>T (p.Ile2Phe) rs756727116 0.00002
NM_000219.6(KCNE1):c.80T>C (p.Met27Thr) rs749957298 0.00002
NM_000219.6(KCNE1):c.9G>A (p.Leu3=) rs868666103 0.00002
NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp) rs758961135 0.00001
NM_000219.6(KCNE1):c.218A>G (p.His73Arg) rs1276203367 0.00001
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) rs74315446 0.00001
NM_000219.6(KCNE1):c.237C>T (p.Asn79=) rs746345034 0.00001
NM_000219.6(KCNE1):c.242A>G (p.Tyr81Cys) rs199473359 0.00001
NM_000219.6(KCNE1):c.246C>T (p.Ile82=) rs555086287 0.00001
NM_000219.6(KCNE1):c.264A>G (p.Gln88=) rs1478444473 0.00001
NM_000219.6(KCNE1):c.277G>A (p.Ala93Thr) rs1310229049 0.00001
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299 0.00001
NM_000219.6(KCNE1):c.78C>T (p.Asn26=) rs201604169 0.00001
NM_000219.6(KCNE1):c.94C>T (p.Arg32Cys) rs200963514 0.00001
NC_000021.8:g.(?_35821543)_(35821932_?)del
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NM_000219.6(KCNE1):c.*1547dup rs11373310
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*91del rs748419617
NM_000219.6(KCNE1):c.*946del rs142762112
NM_000219.6(KCNE1):c.103C>T (p.Pro35Ser)
NM_000219.6(KCNE1):c.104C>T (p.Pro35Leu)
NM_000219.6(KCNE1):c.106C>G (p.Arg36Gly) rs372398235
NM_000219.6(KCNE1):c.106C>T (p.Arg36Cys) rs372398235
NM_000219.6(KCNE1):c.106dup (p.Arg36fs)
NM_000219.6(KCNE1):c.108_109delinsGG (p.Ser37Gly) rs886044294
NM_000219.6(KCNE1):c.110G>A (p.Ser37Asn) rs1290531137
NM_000219.6(KCNE1):c.110G>C (p.Ser37Thr) rs1290531137
NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)
NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp) rs1064795410
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.124C>T (p.Leu42=)
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000219.6(KCNE1):c.139G>C (p.Val47Leu)
NM_000219.6(KCNE1):c.142C>A (p.Leu48Ile) rs75610894
NM_000219.6(KCNE1):c.143T>C (p.Leu48Pro) rs1217080820
NM_000219.6(KCNE1):c.146T>C (p.Met49Thr)
NM_000219.6(KCNE1):c.147G>A (p.Met49Ile)
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg) rs199473354
NM_000219.6(KCNE1):c.159C>A (p.Phe53Leu) rs1981011440
NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del) rs1568836457
NM_000219.6(KCNE1):c.172A>G (p.Thr58Ala) rs147187721
NM_000219.6(KCNE1):c.175C>T (p.Leu59=) rs754731040
NM_000219.6(KCNE1):c.179G>T (p.Gly60Val)
NM_000219.6(KCNE1):c.183C>T (p.Ile61=) rs2123458313
NM_000219.6(KCNE1):c.189G>T (p.Leu63=) rs1057521237
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.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.1A>T (p.Met1Leu) rs2123460074
NM_000219.6(KCNE1):c.200G>T (p.Arg67Leu) rs79654911
NM_000219.6(KCNE1):c.202_205del (p.Ser68fs) rs1555843953
NM_000219.6(KCNE1):c.207G>A (p.Lys69=)
NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln) rs1568836235
NM_000219.6(KCNE1):c.208A>G (p.Lys70Glu) rs1568836235
NM_000219.6(KCNE1):c.209A>T (p.Lys70Met) rs199473646
NM_000219.6(KCNE1):c.211C>G (p.Leu71Val) rs1980991765
NM_000219.6(KCNE1):c.216G>A (p.Glu72=)
NM_000219.6(KCNE1):c.219C>T (p.His73=)
NM_000219.6(KCNE1):c.221C>G (p.Ser74Trp) rs74315446
NM_000219.6(KCNE1):c.223A>C (p.Asn75His)
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs) rs1555843898
NM_000219.6(KCNE1):c.22G>T (p.Ala8Ser)
NM_000219.6(KCNE1):c.230del (p.Pro77fs) rs2123457833
NM_000219.6(KCNE1):c.244A>G (p.Ile82Val)
NM_000219.6(KCNE1):c.244A>T (p.Ile82Phe) rs2123457694
NM_000219.6(KCNE1):c.246C>G (p.Ile82Met)
NM_000219.6(KCNE1):c.256G>A (p.Ala86Thr) rs1980978031
NM_000219.6(KCNE1):c.265G>A (p.Glu89Lys)
NM_000219.6(KCNE1):c.268A>G (p.Lys90Glu)
NM_000219.6(KCNE1):c.275A>G (p.Lys92Arg)
NM_000219.6(KCNE1):c.283G>A (p.Val95Ile) rs772405174
NM_000219.6(KCNE1):c.287A>G (p.Gln96Arg) rs767972997
NM_000219.6(KCNE1):c.288G>A (p.Gln96=)
NM_000219.6(KCNE1):c.292C>A (p.Arg98=) rs199473362
NM_000219.6(KCNE1):c.292C>G (p.Arg98Gly) rs199473362
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000219.6(KCNE1):c.292del (p.Arg98fs) rs1555843717
NM_000219.6(KCNE1):c.294G>T (p.Arg98=)
NM_000219.6(KCNE1):c.311G>C (p.Arg104Thr) rs2123457058
NM_000219.6(KCNE1):c.315G>C (p.Ser105=)
NM_000219.6(KCNE1):c.31C>A (p.Pro11Thr) rs775325455
NM_000219.6(KCNE1):c.327T>G (p.Val109=) rs1601042810
NM_000219.6(KCNE1):c.329A>G (p.Glu110Gly) rs2123456879
NM_000219.6(KCNE1):c.32C>G (p.Pro11Arg) rs771981567
NM_000219.6(KCNE1):c.334_342dup (p.His112_Ala114dup) rs1374867074
NM_000219.6(KCNE1):c.335A>G (p.His112Arg) rs1352531511
NM_000219.6(KCNE1):c.337C>G (p.Leu113Val)
NM_000219.6(KCNE1):c.339G>A (p.Leu113=)
NM_000219.6(KCNE1):c.343A>G (p.Ile115Val)
NM_000219.6(KCNE1):c.349C>T (p.Gln117Ter)
NM_000219.6(KCNE1):c.359C>T (p.Thr120Ile) rs1568835425
NM_000219.6(KCNE1):c.368C>T (p.Pro123Leu) rs1980939963
NM_000219.6(KCNE1):c.370_385del (p.Glu124fs) rs2123456499
NM_000219.6(KCNE1):c.371A>G (p.Glu124Gly)
NM_000219.6(KCNE1):c.379C>T (p.Pro127Ser)
NM_000219.6(KCNE1):c.380C>T (p.Pro127Leu) rs1980935216
NM_000219.6(KCNE1):c.384C>A (p.Ser128=)
NM_000219.6(KCNE1):c.388T>C (p.Ter130Arg) rs2123456481
NM_000219.6(KCNE1):c.39G>C (p.Leu13=) rs976122175
NM_000219.6(KCNE1):c.43A>G (p.Lys15Glu)
NM_000219.6(KCNE1):c.49T>A (p.Trp17Arg)
NM_000219.6(KCNE1):c.49T>C (p.Trp17Arg) rs1469858578
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) rs1244688796
NM_000219.6(KCNE1):c.60A>G (p.Thr20=) rs2123459519
NM_000219.6(KCNE1):c.72T>C (p.Gly24=)
NM_000219.6(KCNE1):c.74G>T (p.Gly25Val)
NM_000219.6(KCNE1):c.75C>A (p.Gly25=) rs753064398
NM_000219.6(KCNE1):c.79A>G (p.Met27Val) rs755452452
NM_000219.6(KCNE1):c.92C>T (p.Ala31Val)
NM_000219.6(KCNE1):c.97A>G (p.Arg33Gly)
NM_000219.6(KCNE1):c.99G>T (p.Arg33Ser)

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