ClinVar Miner

List of variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del) rs587777818
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs) rs587777817
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2111_2112TC[1] (p.Ser705fs) rs587777819
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_001077365.2(POMT1):c.418_420del (p.Met140del) rs587777820
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981

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.