List of variants in gene combination GH-LCR, SCN4A reported as likely pathogenic for Paramyotonia congenita of Von Eulenburg

Minimum submission review status:		Collection method:
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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)	rs527236149	0.00003
NM_000334.4(SCN4A):c.2108T>C (p.Leu703Pro)	rs2144793242
NM_000334.4(SCN4A):c.4418T>C (p.Phe1473Ser)
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)	rs1064794243

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