List of variants in gene combination TMEM43, XPC reported as likely benign 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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024334.3(TMEM43):c.*779A>C	rs13069	0.19544
NM_024334.3(TMEM43):c.*1424T>C	rs10468	0.19535
NM_004628.5(XPC):c.*618A>G	rs2470458	0.16965
NM_024334.3(TMEM43):c.*1374T>C	rs8516	0.16859
NM_024334.3(TMEM43):c.*463A>G	rs1043953	0.15711
NM_024334.3(TMEM43):c.*312A>C	rs11920099	0.04223
NM_024334.3(TMEM43):c.*277C>T	rs11943	0.03059
NM_024334.3(TMEM43):c.*924T>C	rs79741000	0.02523
NM_024334.3(TMEM43):c.*217G>A	rs116757981	0.02517
NM_024334.3(TMEM43):c.*1160A>G	rs9842062	0.01099
NM_004628.5(XPC):c.*192T>C	rs3731178	0.01085
NM_004628.5(XPC):c.2421-11T>C	rs3731167	0.00005
NM_004628.5(XPC):c.*611T>A	rs2470352

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.