List of variants in gene XPC reported as likely pathogenic for Xeroderma pigmentosum

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.2033+1G>A	rs764480429	0.00002
NM_004628.5(XPC):c.621+1G>A	rs1399465960	0.00001
NC_000003.11:g.14187530_(14190449_14193834)del
NM_004628.5(XPC):c.1660C>T (p.Gln554Ter)	rs1696002966
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)	rs749681216
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter)	rs370126012
NM_004628.5(XPC):c.692_693insA (p.Ile232fs)

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.