ClinVar Miner

List of variants studied for collagen 6-related myopathy by Neurogenomics Lab, Neuroscience Institute, University Of Cape Town

Included ClinVar conditions (15):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His)	rs1012567148	0.00004
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)	rs374669775	0.00001
NM_001848.3(COL6A1):c.788G>T (p.Gly263Val)	rs886043351
NM_001849.4(COL6A2):c.1179+2T>C
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)	rs61444459

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.