ClinVar Miner

List of variants reported as benign for Jervell and Lange-Nielsen syndrome 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.*875A>G rs8234 0.38150
NM_000218.3(KCNQ1):c.*932A>G rs10798 0.37559
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000218.3(KCNQ1):c.*479G>A rs2519184 0.10424
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_000218.3(KCNQ1):c.*482G>A rs45510192 0.02395
NM_000218.3(KCNQ1):c.*742G>A rs114844136 0.02390
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000218.3(KCNQ1):c.*264T>C rs45579540 0.01114
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_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000218.3(KCNQ1):c.*350G>A rs114877430 0.00527
NM_000218.3(KCNQ1):c.*305A>C rs45570140 0.00133
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

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