ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A studied for Hypokalemic periodic paralysis 1; Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive

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Total variants: 11
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HGVS dbSNP
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro)
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg)
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys)

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