List of variants in gene GH-LCR, SCN4A studied for SCN4A-related myopathy, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.2809A>C (p.Thr937Pro)	rs752396330	0.00002
NM_000334.4(SCN4A):c.4527G>C (p.Lys1509Asn)	rs1278604861	0.00001
NM_000334.4(SCN4A):c.2623C>G (p.Pro875Ala)	rs201148948
NM_000334.4(SCN4A):c.3679T>C (p.Tyr1227His)	rs1908682760
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	rs121908547

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.