List of variants in gene COL6A2 reported as pathogenic by GeneDx

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1970-9G>A	rs747900252	0.00008
NM_001849.4(COL6A2):c.1461del (p.Ser488fs)	rs398123645	0.00003
NM_001849.4(COL6A2):c.115+2T>C	rs770842374	0.00002
NM_001849.4(COL6A2):c.1000-2A>C	rs1555873356
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)	rs387906609
NM_001849.4(COL6A2):c.1572+1G>A	rs1057520717
NM_001849.4(COL6A2):c.186dup (p.Thr63fs)	rs886041439
NM_001849.4(COL6A2):c.2422+1G>A	rs113828929
NM_001849.4(COL6A2):c.244C>T (p.Gln82Ter)	rs886041447
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)	rs121912942
NM_001849.4(COL6A2):c.2515_2516del (p.Asp839fs)	rs1064793394
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)	rs397515333
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)	rs886044088
NM_001849.4(COL6A2):c.855+1G>A	rs1057517988
NM_001849.4(COL6A2):c.855+1G>C	rs1057517988

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.