List of variants in gene COL7A1 studied for Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg)	rs202237834	0.00010
NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln)	rs568498471	0.00010
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu)	rs140403507	0.00010
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter)	rs761234904	0.00001
NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)	rs2045388619
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs)	rs1235811820
NM_000094.4(COL7A1):c.5018G>A (p.Gly1673Glu)	rs2107706848
NM_000094.4(COL7A1):c.5053-2A>G	rs765480571
NM_000094.4(COL7A1):c.5077A>G (p.Lys1693Glu)	rs2107704760
NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)	rs770456964
NM_000094.4(COL7A1):c.58_70del (p.Arg20fs)	rs2045987838
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)	rs121912844
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)	rs768128088
NM_000094.4(COL7A1):c.6696del (p.Gly2233fs)	rs749256529
NM_000094.4(COL7A1):c.6760G>A (p.Gly2254Arg)	rs2107659888

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.