List of variants in gene B4GAT1 reported as benign for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13

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: 5

Download table as spreadsheet

HGVS	dbSNP
NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu)	rs143223962
NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=)	rs139287952
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr)	rs765114036
NM_006876.3(B4GAT1):c.828G>T (p.Val276=)	rs142956522
NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=)	rs1190625

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.