List of variants in gene combination GH-LCR, SCN4A reported as pathogenic for congenital myasthenic syndrome

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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: 11

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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.2024G>A (p.Arg675Gln)	rs121908557	0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)	rs879253789	0.00001
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His)	rs863225046	0.00001
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	rs80338957
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg)	rs1598406692
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	rs121908547
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu)	rs121908553
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	rs80338962

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