List of variants in gene COL7A1 reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)	rs121912856	0.00008
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter)	rs143457874	0.00003
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)	rs780261665	0.00001
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter)	rs765027608	0.00001
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg)	rs121912851	0.00001
NM_000094.4(COL7A1):c.8138G>A (p.Gly2713Asp)	rs369591910	0.00001
NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter)	rs1262422383
NM_000094.4(COL7A1):c.4039G>C (p.Gly1347Arg)	rs121912833
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)	rs121912844
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)	rs121912836
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg)	rs121912839
NM_000094.4(COL7A1):c.7875+1G>C	rs2107637140
NM_000094.4(COL7A1):c.8065G>A (p.Gly2689Arg)	rs748940147

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.