List of variants in gene combination GH-LCR, SCN4A reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	rs80338958	0.00003
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)	rs377176361	0.00002
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)	rs121908556	0.00001
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)	rs121908551	0.00001
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly)	rs121908556
NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile)	rs80338955
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	rs527236150
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	rs80338792
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro)	rs1598405334
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)	rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)	rs121908545
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)	rs121908548
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	rs80338962
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)	rs1064794243

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