ClinVar Miner

List of variants in gene KCNE1 reported as uncertain significance for Jervell and Lange-Nielsen syndrome 2

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Gene type:
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Total variants: 57
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HGVS dbSNP
NM_000219.6(KCNE1):c.*1043T>C rs886057022
NM_000219.6(KCNE1):c.*1078G>A
NM_000219.6(KCNE1):c.*1192A>G rs886057021
NM_000219.6(KCNE1):c.*1290G>A
NM_000219.6(KCNE1):c.*1338C>T rs74508995
NM_000219.6(KCNE1):c.*1447C>G rs886057020
NM_000219.6(KCNE1):c.*1539C>A
NM_000219.6(KCNE1):c.*1542G>A
NM_000219.6(KCNE1):c.*1556G>A rs886057019
NM_000219.6(KCNE1):c.*1574C>T rs561997378
NM_000219.6(KCNE1):c.*1701A>G rs886057017
NM_000219.6(KCNE1):c.*1831C>T rs41314065
NM_000219.6(KCNE1):c.*1832C>T rs886057016
NM_000219.6(KCNE1):c.*1857G>A
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.*2001G>A rs41314799
NM_000219.6(KCNE1):c.*2008G>A rs886057011
NM_000219.6(KCNE1):c.*2206G>A
NM_000219.6(KCNE1):c.*2298C>G
NM_000219.6(KCNE1):c.*2320G>T rs745512218
NM_000219.6(KCNE1):c.*2329C>A rs373970167
NM_000219.6(KCNE1):c.*2393C>T
NM_000219.6(KCNE1):c.*2413T>A rs747442476
NM_000219.6(KCNE1):c.*2475A>G
NM_000219.6(KCNE1):c.*278A>T
NM_000219.6(KCNE1):c.*30C>G rs150963475
NM_000219.6(KCNE1):c.*366A>C
NM_000219.6(KCNE1):c.*373A>G rs41314805
NM_000219.6(KCNE1):c.*375C>T
NM_000219.6(KCNE1):c.*493C>T rs77190660
NM_000219.6(KCNE1):c.*553A>G rs570907779
NM_000219.6(KCNE1):c.*960C>T
NM_000219.6(KCNE1):c.*995G>C rs886057023
NM_000219.6(KCNE1):c.-101A>T rs74706643
NM_000219.6(KCNE1):c.-13C>T rs745925445
NM_000219.6(KCNE1):c.-170C>T
NM_000219.6(KCNE1):c.-225G>C rs886057026
NM_000219.6(KCNE1):c.-24A>G
NM_000219.6(KCNE1):c.-298C>T rs78250687
NM_000219.6(KCNE1):c.-334G>A
NM_000219.6(KCNE1):c.-377+13G>A rs41315351
NM_000219.6(KCNE1):c.-432G>A rs539503433
NM_000219.6(KCNE1):c.-467A>T rs558817846
NM_000219.6(KCNE1):c.-521G>A
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.-5C>A rs191334763
NM_000219.6(KCNE1):c.-82T>G rs145416040
NM_000219.6(KCNE1):c.111C>T (p.Ser37=) rs150458884
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) rs79654911
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala)
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299
NM_000219.6(KCNE1):c.95G>A (p.Arg32His) rs17857111

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