ClinVar Miner

List of variants reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP
NM_152490.5(B3GALNT2):c.1311+1G>C
NM_152490.5(B3GALNT2):c.652-2A>G	rs1553347936
NM_152490.5(B3GALNT2):c.762+1G>A	rs757347274
NM_152490.5(B3GALNT2):c.842-1G>C	rs764784497

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.