List of variants in gene DMD reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val)	rs28715870	0.02748
NM_004006.3(DMD):c.2623-11C>G	rs1028360	0.02567
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)	rs61733587	0.01098
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)	rs16998350	0.00594
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)	rs34102501	0.00327
NM_004006.3(DMD):c.10087-20C>T	rs41303187	0.00198
NM_004006.3(DMD):c.1483-7C>G	rs112463388	0.00162
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)	rs147822019	0.00036
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn)	rs182708940	0.00020

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.