List of variants in gene COL6A2 reported as likely pathogenic for Ullrich congenital muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1970-9G>A	rs747900252	0.00008
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His)	rs1012567148	0.00004
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)	rs373072443	0.00003
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)	rs749593004	0.00001
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg)	rs779867653	0.00001
NM_001849.4(COL6A2):c.-27-3C>G	rs1288520983
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter)	rs986393872
NM_001849.4(COL6A2):c.1179+1G>T
NM_001849.4(COL6A2):c.1821_1822del (p.Cys607_Glu608delinsTer)
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs)	rs886039905
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)	rs794727419
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys)	rs150168522
NM_001849.4(COL6A2):c.454_455insCA (p.Gly152fs)
NM_001849.4(COL6A2):c.900+2T>G
NM_001849.4(COL6A2):c.928-2A>G	rs1440070681

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.