ClinVar Miner

List of variants reported as likely benign for Duchenne muscular dystrophy by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys) rs745868830 0.00013
NM_004006.3(DMD):c.4072-106G>A rs372444729 0.00009
NM_004006.3(DMD):c.2528A>T (p.Glu843Val) rs202167701 0.00002
NM_004006.3(DMD):c.7359A>G (p.Glu2453=) rs780283825 0.00002
NM_004006.3(DMD):c.9388T>G (p.Cys3130Gly) rs932848232 0.00001
NM_004006.3(DMD):c.1098A>T (p.Gly366=) rs72470507
NM_004006.3(DMD):c.1412C>T (p.Thr471Ile) rs201058100
NM_004006.3(DMD):c.3603G>A (p.Lys1201=) rs1265370991
NM_004006.3(DMD):c.5326-11_5326-7dup rs398123988
NM_004006.3(DMD):c.94-1G>T rs863225016
NM_004006.3(DMD):c.94-2A>T rs1603448428

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.