ClinVar Miner

List of variants studied for Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val) rs748620733 0.00001
NM_000334.4(SCN4A):c.4633A>G (p.Ile1545Val) rs527928131 0.00001
NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp) rs757322725
NM_000334.4(SCN4A):c.32C>T (p.Pro11Leu)
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_006267.5(RANBP2):c.2415A>C (p.Glu805Asp) rs1022223760

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