ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.3(COL7A1):c.6724G>C (p.Gly2242Arg) rs121912837
NM_000094.4(COL7A1):c.6527dupC rs768128088
NM_000094.4(COL7A1):c.7984-2del

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.