List of variants in gene SCN4A reported as pathogenic for Paramyotonia congenita of Von Eulenburg

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp)	rs764718003	0.00001
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	rs80338788
NM_000334.4(SCN4A):c.421A>G (p.Ile141Val)	rs121908561

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