List of variants reported as likely benign for Xeroderma pigmentosum by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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_001204425.2(BIVM-ERCC5):c.1450+6027C>A	rs4150248	0.03070
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_006502.3(POLH):c.*1563dup	rs201071335	0.01967
NM_001204425.2(BIVM-ERCC5):c.1450+6024A>C	rs74109690	0.01436
NM_024334.3(TMEM43):c.*1160A>G	rs9842062	0.01099
NM_004628.5(XPC):c.*192T>C	rs3731178	0.01085
NM_000122.2(ERCC3):c.-98A>G	rs4150398	0.00933
NM_004628.5(XPC):c.2421-11T>C	rs3731167	0.00005
NM_004628.5(XPC):c.*611T>A	rs2470352
NM_006502.3(POLH):c.*4414dup	rs55760315

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.