ClinVar Miner

List of variants reported as benign for Jervell and Lange-Nielsen syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.*2529C>T rs2834485 0.69189
NM_000218.3(KCNQ1):c.1393+28111T>G rs114030398 0.56819
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_000218.3(KCNQ1):c.*875A>G rs8234 0.38150
NM_000218.3(KCNQ1):c.*932A>G rs10798 0.37559
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_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000218.3(KCNQ1):c.1393+31361T>A rs200391321 0.16051
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_000218.3(KCNQ1):c.*479G>A rs2519184 0.10424
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_000219.6(KCNE1):c.*2461A>G rs13050198 0.06850
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_000219.6(KCNE1):c.*1068A>C rs41314803 0.03124
NM_000219.6(KCNE1):c.-253A>G rs41315471 0.02496
NM_000218.3(KCNQ1):c.*482G>A rs45510192 0.02395
NM_000218.3(KCNQ1):c.*742G>A rs114844136 0.02390
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_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000218.3(KCNQ1):c.*264T>C rs45579540 0.01114
NM_000219.6(KCNE1):c.*268C>T rs41314807 0.01093
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000218.3(KCNQ1):c.*219G>A rs45477500 0.01002
NM_000219.6(KCNE1):c.-464G>A rs4817670 0.00871
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000218.3(KCNQ1):c.*350G>A rs114877430 0.00527
NM_000219.6(KCNE1):c.-100T>C rs41314819 0.00267
NM_000218.3(KCNQ1):c.*305A>C rs45570140 0.00133
NM_000219.6(KCNE1):c.-198C>T rs376688699 0.00019
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 0.00019
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) rs201698592 0.00003
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000219.6(KCNE1):c.*1547dup rs11373310
NM_000219.6(KCNE1):c.*1815A>G rs57555550
NM_000219.6(KCNE1):c.*2007= rs2211696
NM_000219.6(KCNE1):c.*2123G>A rs41314793

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