List of variants in gene SYNE2 reported as uncertain significance for Emery-Dreifuss muscular dystrophy

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_182914.3(SYNE2):c.3971C>T (p.Ala1324Val)	rs778039158	0.00005
NM_182914.3(SYNE2):c.16194C>T (p.Ala5398=)	rs764264884	0.00004
NM_182914.3(SYNE2):c.16304T>G (p.Leu5435Arg)	rs750900424	0.00002
NM_182914.3(SYNE2):c.20399T>C (p.Leu6800Pro)	rs763134759	0.00001
NM_182914.3(SYNE2):c.1129-4_1129-3del	rs886050578
NM_182914.3(SYNE2):c.12001_12002inv (p.Trp4001Gln)
NM_182914.3(SYNE2):c.8928T>G (p.Gly2976=)	rs373828834

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.