List of variants reported as pathogenic for Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)	rs377176361	0.00002
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)	rs80338784	0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)	rs121908557	0.00001
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	rs527236150
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	rs80338792
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	rs80338962

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