ClinVar Miner

List of variants in gene COL7A1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_000094.3(COL7A1):c.1970C>G (p.Pro657Arg) rs369972686
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.54G>C (p.Ala18=) rs35899847
NM_000094.4(COL7A1):c.5459C>G rs143037856
NM_000094.4(COL7A1):c.6082G>A rs762162799

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.