ClinVar Miner

List of variants reported as benign for Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802
NM_005236.2(ERCC4):c.1446A>G (p.Glu482=) rs114077770
NM_005236.2(ERCC4):c.1812-5T>C rs2020952
NM_005236.2(ERCC4):c.1884A>G (p.Glu628=) rs2020958
NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955
NM_005236.2(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069
NM_005236.2(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.2(ERCC4):c.2463A>G (p.Pro821=) rs2020953
NM_005236.2(ERCC4):c.252C>T (p.Leu84=) rs3136056
NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005236.2(ERCC4):c.2655G>A (p.Thr885=) rs16963255
NM_005236.2(ERCC4):c.2724C>T (p.Val908=) rs3136225
NM_005236.2(ERCC4):c.33C>T (p.Ala11=) rs3136042
NM_005236.2(ERCC4):c.389-5C>T rs377224276
NM_005236.2(ERCC4):c.974-6T>C rs201181735

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.