List of variants in gene COL17A1 reported as uncertain significance for epithelial recurrent erosion dystrophy

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000494.4(COL17A1):c.4081G>A (p.Gly1361Arg)	rs143021968	0.00023
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)	rs148601977	0.00016
NM_000494.4(COL17A1):c.2362+7C>T	rs199555448	0.00010
NM_000494.4(COL17A1):c.3277+3G>C	rs757250244	0.00007
NM_000494.4(COL17A1):c.1339G>T (p.Gly447Cys)	rs200223042
NM_000494.4(COL17A1):c.2065G>A (p.Gly689Ser)
NM_000494.4(COL17A1):c.2516-11C>A
NM_000494.4(COL17A1):c.3071-5G>A	rs370589324
NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu)	rs2086242885

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.