ClinVar Miner

List of variants in gene KCNE1 studied for Jervell-Lange Nielsen syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP
NM_000219.4:c.[172A>C;176T>C] rs281865421
NM_000219.5(KCNE1):c.-561C>T rs886057028
NM_000219.5(KCNE1):c.-577C>T rs11702354
NM_000219.5(KCNE1):c.-605G>A rs780282543
NM_000219.5(KCNE1):c.-628A>G rs76210431
NM_000219.6(KCNE1):c.*1043T>C rs886057022
NM_000219.6(KCNE1):c.*1068A>C rs41314803
NM_000219.6(KCNE1):c.*1192A>G rs886057021
NM_000219.6(KCNE1):c.*1219A>G rs11909074
NM_000219.6(KCNE1):c.*1226_*1229del rs551512090
NM_000219.6(KCNE1):c.*124A>G rs2070357
NM_000219.6(KCNE1):c.*1322A>G rs11700621
NM_000219.6(KCNE1):c.*132A>G rs41314071
NM_000219.6(KCNE1):c.*1338C>T rs74508995
NM_000219.6(KCNE1):c.*1447C>G rs886057020
NM_000219.6(KCNE1):c.*1547dup rs11373310
NM_000219.6(KCNE1):c.*1556G>A rs886057019
NM_000219.6(KCNE1):c.*1574C>T rs561997378
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*1666G>A rs181999033
NM_000219.6(KCNE1):c.*1701A>G rs886057017
NM_000219.6(KCNE1):c.*1815A>G rs57555550
NM_000219.6(KCNE1):c.*1831C>T rs41314065
NM_000219.6(KCNE1):c.*1832C>T rs886057016
NM_000219.6(KCNE1):c.*1838T>A rs41312369
NM_000219.6(KCNE1):c.*1859G>A rs754021039
NM_000219.6(KCNE1):c.*1928T>C rs886057015
NM_000219.6(KCNE1):c.*196C>G rs76568182
NM_000219.6(KCNE1):c.*2000C>T rs544071641
NM_000219.6(KCNE1):c.*2001G>A rs41314799
NM_000219.6(KCNE1):c.*2007= rs2211696
NM_000219.6(KCNE1):c.*2008G>A rs886057011
NM_000219.6(KCNE1):c.*2098T>C rs41312993
NM_000219.6(KCNE1):c.*2103C>T rs41312367
NM_000219.6(KCNE1):c.*2150G>A rs530554373
NM_000219.6(KCNE1):c.*2194T>C rs529806670
NM_000219.6(KCNE1):c.*2320G>T rs745512218
NM_000219.6(KCNE1):c.*2329C>A rs373970167
NM_000219.6(KCNE1):c.*2413T>A rs747442476
NM_000219.6(KCNE1):c.*2461A>G rs13050198
NM_000219.6(KCNE1):c.*2480A>G rs3453
NM_000219.6(KCNE1):c.*2529C>T rs2834485
NM_000219.6(KCNE1):c.*268C>T rs41314807
NM_000219.6(KCNE1):c.*30C>G rs150963475
NM_000219.6(KCNE1):c.*373A>G rs41314805
NM_000219.6(KCNE1):c.*456C>T rs2070356
NM_000219.6(KCNE1):c.*457G>A rs886057024
NM_000219.6(KCNE1):c.*490G>C rs41314067
NM_000219.6(KCNE1):c.*493C>T rs77190660
NM_000219.6(KCNE1):c.*553A>G rs570907779
NM_000219.6(KCNE1):c.*578T>C rs16991703
NM_000219.6(KCNE1):c.*817A>G rs75375964
NM_000219.6(KCNE1):c.*91del rs748419617
NM_000219.6(KCNE1):c.*923G>A rs182050647
NM_000219.6(KCNE1):c.*946del rs142762112
NM_000219.6(KCNE1):c.*995G>C rs886057023
NM_000219.6(KCNE1):c.-100T>C rs41314819
NM_000219.6(KCNE1):c.-101A>T rs74706643
NM_000219.6(KCNE1):c.-13C>T rs745925445
NM_000219.6(KCNE1):c.-225G>C rs886057026
NM_000219.6(KCNE1):c.-252G>A rs2834502
NM_000219.6(KCNE1):c.-253A>G rs41315471
NM_000219.6(KCNE1):c.-298C>T rs78250687
NM_000219.6(KCNE1):c.-375A>G rs41315349
NM_000219.6(KCNE1):c.-377+13G>A rs41315351
NM_000219.6(KCNE1):c.-432G>A rs539503433
NM_000219.6(KCNE1):c.-464G>A rs4817670
NM_000219.6(KCNE1):c.-467A>T rs558817846
NM_000219.6(KCNE1):c.-522C>T rs370482882
NM_000219.6(KCNE1):c.-530G>A rs886057027
NM_000219.6(KCNE1):c.-57T>C rs886057025
NM_000219.6(KCNE1):c.-82T>G rs145416040
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127
NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter) rs758346045
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) rs28933384
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) rs199473360
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345
NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter) rs779124360
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) rs1244688796
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510

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