ClinVar Miner

List of variants studied for Ullrich congenital muscular dystrophy by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (13):

Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Collagen 6-related myopathy
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Collagen 6-related myopathy; Dystonia 27
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Myosclerosis
Bethlem myopathy 2; Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 1A
Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 2
Ullrich congenital muscular dystrophy 1B
Ullrich congenital muscular dystrophy 1C
Ullrich congenital muscular dystrophy 2
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2422+1G>A	rs113828929
NM_004370.6(COL12A1):c.756dup (p.Ser253fs)	rs1582208315

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.