ClinVar Miner

List of variants reported as likely benign for Jervell and Lange-Nielsen syndrome 2

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_000219.6(KCNE1):c.*817A>G rs75375964 0.00188
NM_000219.6(KCNE1):c.*1838T>A rs41312369 0.00083
NM_000219.6(KCNE1):c.-531C>T rs41315473 0.00039
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345 0.00027
NM_000219.6(KCNE1):c.*1666G>A rs181999033 0.00019
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000219.6(KCNE1):c.*2000C>T rs544071641 0.00006
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005
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.*923G>A rs182050647

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