ClinVar Miner

List of variants in gene KCNE1 studied for Congenital long QT syndrome

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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.*2529C>T rs2834485 0.69189
NM_000219.6(KCNE1):c.*1219A>G rs11909074 0.50320
NM_000219.6(KCNE1):c.*2480A>G rs3453 0.48112
NM_000219.6(KCNE1):c.*456C>T rs2070356 0.48073
NM_000219.6(KCNE1):c.*124A>G rs2070357 0.44827
NM_000219.5(KCNE1):c.-577C>T rs11702354 0.23004
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.*2461A>G rs13050198 0.06850
NM_000219.6(KCNE1):c.*1068A>C rs41314803 0.03124
NM_000219.6(KCNE1):c.-253A>G rs41315471 0.02496
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.*268C>T rs41314807 0.01093
NM_000219.6(KCNE1):c.-464G>A rs4817670 0.00871
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.*493C>T rs77190660 0.00371
NM_000219.6(KCNE1):c.-377+13G>A rs41315351 0.00323
NM_000219.6(KCNE1):c.-100T>C rs41314819 0.00267
NM_000219.6(KCNE1):c.*1338C>T rs74508995 0.00201
NM_000219.6(KCNE1):c.*817A>G rs75375964 0.00188
NM_000219.5(KCNE1):c.-628A>G rs76210431 0.00186
NM_000219.6(KCNE1):c.*1556G>A rs886057019 0.00114
NM_000219.6(KCNE1):c.*1838T>A rs41312369 0.00083
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.-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.*373A>G rs41314805 0.00022
NM_000219.6(KCNE1):c.*1666G>A rs181999033 0.00019
NM_000219.6(KCNE1):c.-530G>A rs886057027 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.*1831C>T rs41314065 0.00016
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.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000219.6(KCNE1):c.*1832C>T rs886057016 0.00006
NM_000219.6(KCNE1):c.*2000C>T rs544071641 0.00006
NM_000219.6(KCNE1):c.-432G>A rs539503433 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 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.*2150G>A rs530554373 0.00003
NM_000219.6(KCNE1):c.*2194T>C rs529806670 0.00003
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.163G>A (p.Gly55Ser) rs199473644 0.00003
NM_000219.6(KCNE1):c.172A>C (p.Thr58Pro) rs147187721 0.00003
NM_000219.6(KCNE1):c.176T>C (p.Leu59Pro) rs141813529 0.00003
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) rs199473360 0.00003
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.54G>A (p.Gln18=) rs149875299 0.00001
NM_000219.6(KCNE1):c.*1043T>C rs886057022
NM_000219.6(KCNE1):c.*1192A>G rs886057021
NM_000219.6(KCNE1):c.*1547dup rs11373310
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*1701A>G rs886057017
NM_000219.6(KCNE1):c.*1815A>G rs57555550
NM_000219.6(KCNE1):c.*1928T>C rs886057015
NM_000219.6(KCNE1):c.*2007= rs2211696
NM_000219.6(KCNE1):c.*2008G>A rs886057011
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.*553A>G rs570907779
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.-225G>C rs886057026
NM_000219.6(KCNE1):c.-522C>T rs370482882
NM_000219.6(KCNE1):c.-57T>C rs886057025
NM_000219.6(KCNE1):c.139G>T (p.Val47Phe) rs199473353
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg) rs199473354
NM_000219.6(KCNE1):c.158T>C (p.Phe53Ser) rs199473355
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.209A>T (p.Lys70Met) rs199473646
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) rs28933384
NM_000219.6(KCNE1):c.210G>C (p.Lys70Asn) rs199473356
NM_000219.6(KCNE1):c.259T>C (p.Trp87Arg) rs199473361
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000219.6(KCNE1):c.379C>A (p.Pro127Thr) rs199473647
NM_000219.6(KCNE1):c.59C>T (p.Thr20Ile) rs199473349

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