ClinVar Miner

List of variants studied for Duchenne muscular dystrophy by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004006.3(DMD):c.5739+1G>T rs886043041 0.00001
GRCh37/hg19 Xp21.1(chrX:32235149-32459424)
GRCh37/hg19 Xp21.1(chrX:32466518-32928163)
GRCh37/hg19 Xp21.1(chrX:32587530-32719171)
NM_004006.3(DMD):c.10395-1G>A rs1602338283
NM_004006.3(DMD):c.1153T>C (p.Tyr385His) rs2059650911
NM_004006.3(DMD):c.2381-2A>C rs1603634749
NM_004006.3(DMD):c.5266C>T (p.Gln1756Ter) rs1557303544
NM_004006.3(DMD):c.5652del (p.Arg1884fs) rs1057518692
NM_004006.3(DMD):c.5922+1G>T rs1603631219
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004020.4(DMD):c.2843+6256_2843+6260dup rs1602360475

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.