ClinVar Miner

List of variants reported as likely pathogenic for Duchenne muscular dystrophy by 3billion

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr) rs1602169535
NM_004006.3(DMD):c.1399dup (p.Thr467fs)
NM_004006.3(DMD):c.1999C>T (p.Gln667Ter)
NM_004006.3(DMD):c.2857del (p.Thr953fs)
NM_004006.3(DMD):c.506dup (p.Leu169fs) rs2148806096
NM_004006.3(DMD):c.5363C>A (p.Ser1788Ter) rs199774535
NM_004006.3(DMD):c.5656dup (p.Ala1886fs) rs2146991528
NM_004006.3(DMD):c.7197dup (p.Lys2400fs) rs2149493164
NM_004006.3(DMD):c.8401G>T (p.Glu2801Ter) rs2147076595
NM_004006.3(DMD):c.9238dup (p.Thr3080fs) rs2147649419
NM_004006.3(DMD):c.9484G>T (p.Glu3162Ter) rs778367724

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.