List of variants in gene COL6A3 reported by OMIM

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg)	rs182976977	0.00064
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)	rs552651651	0.00025
NM_004369.4(COL6A3):c.8966-1G>C	rs767517186	0.00004
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)	rs786205870	0.00003
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)	rs541928674	0.00001
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)	rs121434554
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)	rs121434553
NM_004369.4(COL6A3):c.5177T>G (p.Leu1726Arg)	rs121434555
NM_004369.4(COL6A3):c.6156+1_6156+2delinsTC
NM_004369.4(COL6A3):c.6210+1G>A	rs398124126
NM_004369.4(COL6A3):c.6930+5G>A	rs749037028

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.