List of variants in gene COL6A3 studied for Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP
NM_004369.3(COL6A3):c.4727G>A (p.Arg1576Gln)	rs61729839
NM_004369.3(COL6A3):c.6283-2A>C	rs797044988
NM_004369.3(COL6A3):c.6354+1G>A	rs886042883
NM_004369.3(COL6A3):c.6369G>A (p.Leu2123=)	rs2646254
NM_004369.3(COL6A3):c.6653C>T (p.Pro2218Leu)	rs36117715
NM_004369.3(COL6A3):c.6855G>C (p.Gly2285=)	rs3790993
NM_004369.3(COL6A3):c.6945C>T (p.Phe2315=)	rs2646265
NM_004369.3(COL6A3):c.6981A>G (p.Glu2327=)	rs35993209
NM_004369.3(COL6A3):c.7086A>C (p.Gly2362=)	rs35902696
NM_004369.3(COL6A3):c.7329C>T (p.Ala2443=)	rs10084221
NM_004369.3(COL6A3):c.7509G>A (p.Arg2503=)	rs34181055
NM_004369.3(COL6A3):c.7512C>T (p.Asn2504=)	rs2646258
NM_004369.3(COL6A3):c.7596G>A (p.Lys2532=)	rs2291795
NM_004369.3(COL6A3):c.7842C>T (p.Ser2614=)	rs34558385
NM_004369.3(COL6A3):c.7928C>T (p.Ala2643Val)	rs111595697

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.