List of variants in gene COL7A1 reported as likely pathogenic for Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Epidermolysis bullosa pruriginosa

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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)	rs377182638	0.00001
NM_000094.4(COL7A1):c.5668G>A (p.Gly1890Ser)	rs2107682264
NM_000094.4(COL7A1):c.8101G>T (p.Gly2701Trp)	rs1575418015

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.