List of variants in gene SCN4A reported as likely benign for Congenital myasthenic syndrome 16

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)	rs80338952	0.01562
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	rs187401185	0.00331
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)	rs41280110	0.00232
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg)	rs182691342	0.00021
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val)	rs149907018	0.00011

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