ClinVar Miner

List of variants in gene POMT1 reported as likely pathogenic for Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_001077365.2(POMT1):c.1176-2A>G
NM_001077365.2(POMT1):c.1272+2T>C rs1564365317
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244
NM_001077365.2(POMT1):c.1698+1G>A rs763586263
NM_001077365.2(POMT1):c.1699-1G>A
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171
NM_001077365.2(POMT1):c.229+2T>C
NM_001077365.2(POMT1):c.427+1G>A
NM_001077365.2(POMT1):c.699+67G>A rs776061161
NM_001077365.2(POMT1):c.987-2A>C rs1453773610

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.