ClinVar Miner

List of variants in gene XPC reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.2251-6A>C rs2279017 0.64290
NM_004628.5(XPC):c.2061G>A (p.Arg687=) rs2227998 0.26212
NM_004628.5(XPC):c.1496C>T (p.Ala499Val) rs2228000 0.21224
NM_004628.5(XPC):c.1475G>A (p.Arg492His) rs2227999 0.03986
NM_004628.5(XPC):c.622-16C>G rs3731111 0.02487
NM_004628.5(XPC):c.300G>A (p.Arg100=) rs2228002 0.02396
NM_004628.5(XPC):c.142C>T (p.Leu48Phe) rs2229089 0.02177
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_004628.5(XPC):c.2028C>T (p.Tyr676=) rs2228004 0.00805
NM_004628.5(XPC):c.2066C>T (p.Thr689Met) rs3731152 0.00315
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 0.00098
NM_004628.5(XPC):c.1178G>A (p.Arg393Gln) rs376220736 0.00011
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00004
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) rs374117852 0.00004
NM_004628.5(XPC):c.2453A>G (p.Lys818Arg) rs367953088 0.00004
NM_004628.5(XPC):c.622-2A>C rs201940931 0.00003
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_004628.5(XPC):c.2033+1G>A rs764480429 0.00002
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004628.5(XPC):c.2011C>T (p.Arg671Cys) rs771891932 0.00001
NM_004628.5(XPC):c.2765A>C (p.Lys922Thr) rs767346855 0.00001
NM_004628.5(XPC):c.658C>T (p.Arg220Ter) rs745679643 0.00001
NC_000003.11:g.14187530_(14190449_14193834)del
NM_004628.5(XPC):c.1001C>T (p.Pro334Leu)
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.1660C>T (p.Gln554Ter) rs1696002966
NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter) rs1695999145
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter) rs370126012
NM_004628.5(XPC):c.420_423del (p.Glu141fs) rs1330667099
NM_004628.5(XPC):c.463C>T (p.Arg155Ter) rs755825264
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918

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.