ClinVar Miner

List of variants reported as likely pathogenic for Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 by Fulgent Genetics, Fulgent Genetics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)	rs527236148	0.00001
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)	rs886041805

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