List of variants in gene combination GH-LCR, SCN4A reported as pathogenic by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)	rs121908556	0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)	rs121908557	0.00001
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	rs527236150
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg)	rs1598406692

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