ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as benign for 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: 9
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HGVS dbSNP
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906

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