ClinVar Miner

List of variants in gene KCNE1 reported as uncertain significance for congenital anomaly of cardiovascular system

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 158
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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.*493C>T rs77190660 0.00371
NM_000219.6(KCNE1):c.-377+13G>A rs41315351 0.00323
NM_000219.6(KCNE1):c.*1338C>T rs74508995 0.00201
NM_000219.6(KCNE1):c.*1556G>A rs886057019 0.00114
NM_000219.6(KCNE1):c.*2001G>A rs41314799 0.00083
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.-334G>A rs891779914 0.00041
NM_000219.6(KCNE1):c.-101A>T rs74706643 0.00038
NM_000219.6(KCNE1):c.-467A>T rs558817846 0.00035
NM_000219.6(KCNE1):c.*1574C>T rs561997378 0.00033
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.*373A>G rs41314805 0.00022
NM_000219.6(KCNE1):c.-530G>A rs886057027 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.*2475A>G rs913676929 0.00017
NM_000219.6(KCNE1):c.*1831C>T rs41314065 0.00016
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.23C>T (p.Ala8Val) rs199473348 0.00011
NM_000219.6(KCNE1):c.*1447C>G rs886057020 0.00010
NM_000219.6(KCNE1):c.*1859G>A rs754021039 0.00010
NM_000219.6(KCNE1):c.-82T>G rs145416040 0.00010
NM_000219.6(KCNE1):c.-298C>T rs78250687 0.00009
NM_000219.5(KCNE1):c.-605G>A rs780282543 0.00008
NM_000219.6(KCNE1):c.*1290G>A rs890174554 0.00008
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000219.6(KCNE1):c.*1832C>T rs886057016 0.00006
NM_000219.6(KCNE1):c.-3del rs397515878 0.00006
NM_000219.6(KCNE1):c.-432G>A rs539503433 0.00005
NM_000219.6(KCNE1):c.-5C>A rs191334763 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.*457G>A rs886057024 0.00003
NM_000219.6(KCNE1):c.-13C>T rs745925445 0.00003
NM_000219.6(KCNE1):c.107G>A (p.Arg36His) rs199473351 0.00003
NM_000219.6(KCNE1):c.109A>G (p.Ser37Gly) rs202036483 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.-170C>T rs1003872251 0.00002
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe) rs75610894 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.4A>T (p.Ile2Phe) rs756727116 0.00002
NM_000219.6(KCNE1):c.80T>C (p.Met27Thr) rs749957298 0.00002
NM_000219.6(KCNE1):c.-521G>A rs76286526 0.00001
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.242A>G (p.Tyr81Cys) rs199473359 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.94C>T (p.Arg32Cys) rs200963514 0.00001
NM_000219.6(KCNE1):c.*1043T>C rs886057022
NM_000219.6(KCNE1):c.*1078G>A rs41312995
NM_000219.6(KCNE1):c.*1192A>G rs886057021
NM_000219.6(KCNE1):c.*1539C>A rs41314801
NM_000219.6(KCNE1):c.*1542G>A rs1448578468
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*1701A>G rs886057017
NM_000219.6(KCNE1):c.*1857G>A rs1980726981
NM_000219.6(KCNE1):c.*1928T>C rs886057015
NM_000219.6(KCNE1):c.*2008G>A rs886057011
NM_000219.6(KCNE1):c.*2206G>A rs1454920552
NM_000219.6(KCNE1):c.*2298C>G rs896302148
NM_000219.6(KCNE1):c.*2320G>T rs745512218
NM_000219.6(KCNE1):c.*2329C>A rs373970167
NM_000219.6(KCNE1):c.*2393C>T rs567630448
NM_000219.6(KCNE1):c.*2413T>A rs747442476
NM_000219.6(KCNE1):c.*278A>T rs1980898848
NM_000219.6(KCNE1):c.*366A>C rs1980887753
NM_000219.6(KCNE1):c.*375C>T rs1447216919
NM_000219.6(KCNE1):c.*553A>G rs570907779
NM_000219.6(KCNE1):c.*91del rs748419617
NM_000219.6(KCNE1):c.*960C>T rs544365018
NM_000219.6(KCNE1):c.*995G>C rs886057023
NM_000219.6(KCNE1):c.-225G>C rs886057026
NM_000219.6(KCNE1):c.-24A>G rs1476804491
NM_000219.6(KCNE1):c.-376-8A>T
NM_000219.6(KCNE1):c.-522C>T rs370482882
NM_000219.6(KCNE1):c.-57T>C rs886057025
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.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.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.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.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.179G>T (p.Gly60Val)
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.200G>T (p.Arg67Leu) rs79654911
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.221C>G (p.Ser74Trp) rs74315446
NM_000219.6(KCNE1):c.223A>C (p.Asn75His)
NM_000219.6(KCNE1):c.22G>T (p.Ala8Ser)
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.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.311G>C (p.Arg104Thr) rs2123457058
NM_000219.6(KCNE1):c.31C>A (p.Pro11Thr) rs775325455
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.343A>G (p.Ile115Val)
NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala) rs1235182008
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.388T>C (p.Ter130Arg) rs2123456481
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.74G>T (p.Gly25Val)
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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