List of variants in gene combination LOC129936244, XPC reported as uncertain significance for Xeroderma pigmentosum, group C

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.37G>C (p.Gly13Arg)	rs201273381	0.00057
NM_004628.4(XPC):c.-82C>G	rs768047123	0.00008
NM_004628.5(XPC):c.102G>A (p.Glu34=)	rs72561774	0.00007
NM_004628.5(XPC):c.17C>G (p.Ala6Gly)	rs770358796	0.00005
NM_004628.5(XPC):c.-4C>T	rs200570610	0.00004
NM_004628.5(XPC):c.26G>T (p.Gly9Val)	rs376802950	0.00004
NM_004628.4(XPC):c.-84C>T	rs747342888	0.00001
NM_004628.5(XPC):c.1A>G (p.Met1Val)	rs763678756	0.00001
NM_004628.4(XPC):c.-55G>T	rs142935792
NM_004628.5(XPC):c.52A>C (p.Ser18Arg)	rs587778757
NM_004628.5(XPC):c.90GGA[4] (p.Glu34del)	rs750450365
NM_004628.5(XPC):c.90GGA[6] (p.Glu34dup)	rs750450365

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.