ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as likely benign for Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_017739.3(POMGNT1):c.1014C>T (p.Asp338=) rs780555791
NM_017739.3(POMGNT1):c.1167T>C (p.Ala389=) rs183698543
NM_017739.3(POMGNT1):c.1284+9G>C rs565797493
NM_017739.3(POMGNT1):c.1305G>A (p.Glu435=) rs1272401946
NM_017739.3(POMGNT1):c.1509C>T (p.Ile503=) rs370215834
NM_017739.3(POMGNT1):c.421-7C>A rs189274856
NM_017739.3(POMGNT1):c.751+10G>A rs200759272
NM_017739.3(POMGNT1):c.751+8T>C rs1553163692

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.