ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000218.2(KCNQ1):c.*479G>A rs2519184
NM_000218.2(KCNQ1):c.*875A>G rs8234
NM_000218.2(KCNQ1):c.*932A>G rs10798
NM_000218.2(KCNQ1):c.1393+28111T>G rs114030398
NM_000218.2(KCNQ1):c.1393+31361T>A rs200391321
NM_000218.2(KCNQ1):c.1638G>A (p.Ser546=) rs1057128
NM_000218.2(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.2(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.2(KCNQ1):c.478-10G>A rs28730752
NM_000219.5(KCNE1):c.-577C>T rs11702354
NM_000219.6(KCNE1):c.*1068A>C rs41314803
NM_000219.6(KCNE1):c.*1219A>G rs11909074
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.*1547dup rs11373310
NM_000219.6(KCNE1):c.*2007= rs2211696
NM_000219.6(KCNE1):c.*2480A>G rs3453
NM_000219.6(KCNE1):c.*2529C>T rs2834485
NM_000219.6(KCNE1):c.*456C>T rs2070356
NM_000219.6(KCNE1):c.*490G>C rs41314067
NM_000219.6(KCNE1):c.*578T>C rs16991703
NM_000219.6(KCNE1):c.-252G>A rs2834502
NM_000219.6(KCNE1):c.-464G>A rs4817670
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127

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