List of variants in gene COL6A2 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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr)	rs35139588	0.01019
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)	rs61735835	0.00998
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)	rs141703710	0.00717
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)	rs75120695	0.00315
NM_001849.4(COL6A2):c.1970-9G>A	rs747900252	0.00008
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu)	rs763443381

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.