List of variants studied for Becker muscular dystrophy by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP
NM_000109.4(DMD):c.5300_5301delinsGT (p.Lys1767Ser)	rs1557303381
NM_000109.4(DMD):c.606del (p.Lys203fs)	rs1557047827
NM_000109.4(DMD):c.9830_9839del (p.Met3277fs)	rs398124105
NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter)	rs104894787
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)	rs886043375
NM_004006.2(DMD):c.2669T>A (p.Leu890Ter)	rs1557380616
NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter)	rs398123935
NM_004006.2(DMD):c.6502G>T (p.Glu2168Ter)	rs779739455
NM_004006.2(DMD):c.7310-1G>A	rs1556880354
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)	rs886042840
NM_004006.3(DMD):c.1812+1G>A	rs373286166

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.