ClinVar Miner

List of variants studied for Duchenne muscular dystrophy by Garshasbi Lab, Tarbiat Modares University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1402_1403del (p.Glu468fs) rs2149350070
NM_004006.3(DMD):c.2416_2417del (p.Glu806fs) rs2148632518
NM_004006.3(DMD):c.287del (p.Ser96fs) rs2148850492
NM_004006.3(DMD):c.3210del (p.Phe1070_Leu1071insTer) rs2148427910
NM_004006.3(DMD):c.5114C>A (p.Ser1705Ter) rs2097848034

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.