ClinVar Miner

List of variants reported as pathogenic for Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset by Fulgent Genetics,Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_003494.3(DYSF):c.2643+1G>A rs140108514

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.