ClinVar Miner

List of variants in gene XPC studied for Xeroderma pigmentosum

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_004628.5(XPC):c.2066C>T (p.Thr689Met) rs3731152 0.00315
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln) rs3731177 0.00285
NM_004628.5(XPC):c.2232A>C (p.Pro744=) rs189619298 0.00221
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys) rs183238369 0.00126
NM_004628.5(XPC):c.1497G>A (p.Ala499=) rs150344169 0.00123
NM_004628.5(XPC):c.2250+6G>A rs201446851 0.00111
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 0.00098
NM_004628.5(XPC):c.2496T>C (p.Ile832=) rs201597537 0.00083
NM_004628.5(XPC):c.1531A>C (p.Lys511Gln) rs6413541 0.00052
NM_004628.5(XPC):c.2088G>A (p.Val696=) rs182189497 0.00042
NM_004628.5(XPC):c.749A>G (p.Asp250Gly) rs201247727 0.00040
NM_004628.5(XPC):c.779+11C>T rs199838876 0.00033
NM_004628.5(XPC):c.1009G>A (p.Glu337Lys) rs541829970 0.00014
NM_004628.5(XPC):c.1781G>A (p.Arg594His) rs147900621 0.00014
NM_004628.5(XPC):c.259G>C (p.Val87Leu) rs374572265 0.00014
NM_004628.5(XPC):c.1022C>T (p.Ala341Val) rs192285219 0.00013
NM_004628.5(XPC):c.1133G>A (p.Arg378Lys) rs533121927 0.00011
NM_004628.5(XPC):c.413-4A>G rs367977379 0.00010
NM_004628.5(XPC):c.1509C>T (p.Ser503=) rs760867012 0.00009
NM_004628.5(XPC):c.2238C>T (p.Ala746=) rs375170067 0.00009
NM_004628.5(XPC):c.2572A>G (p.Arg858Gly) rs779675386 0.00008
NM_004628.5(XPC):c.2730T>C (p.Asp910=) rs372394855 0.00007
NM_004628.5(XPC):c.2067G>A (p.Thr689=) rs765391700 0.00006
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_004628.5(XPC):c.2633C>G (p.Ala878Gly) rs183167499 0.00006
NM_004628.5(XPC):c.877C>T (p.Arg293Ter) rs373519125 0.00005
NM_004628.5(XPC):c.*411dup rs886058047 0.00004
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00004
NM_004628.5(XPC):c.1616A>G (p.Glu539Gly) rs563236303 0.00004
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) rs374117852 0.00004
NM_004628.5(XPC):c.2153G>A (p.Arg718Gln) rs373308689 0.00004
NM_004628.5(XPC):c.*428G>A rs886058046 0.00003
NM_004628.5(XPC):c.352A>G (p.Met118Val) rs967577305 0.00003
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.465A>G (p.Arg155=) rs370322435 0.00002
NM_004628.5(XPC):c.1015T>C (p.Leu339=) rs1479935789 0.00001
NM_004628.5(XPC):c.1149G>A (p.Gly383=) rs761062571 0.00001
NM_004628.5(XPC):c.1647C>T (p.His549=) rs190103795 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004628.5(XPC):c.1913T>C (p.Ile638Thr) rs752133677 0.00001
NM_004628.5(XPC):c.2011C>T (p.Arg671Cys) rs771891932 0.00001
NM_004628.5(XPC):c.205G>C (p.Gly69Arg) rs533660155 0.00001
NM_004628.5(XPC):c.2655T>A (p.Asp885Glu) rs776266193 0.00001
NM_004628.5(XPC):c.338A>G (p.Lys113Arg) rs560354293 0.00001
NM_004628.5(XPC):c.507G>T (p.Thr169=) rs1286285107 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.1000C>T (p.Pro334Ser) rs200338014
NM_004628.5(XPC):c.160G>C (p.Gly54Arg) rs1696674854
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.1803G>A (p.Glu601=) rs1161680970
NM_004628.5(XPC):c.2116-10T>C rs1695570524
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.2161G>A (p.Glu721Lys) rs886058048
NM_004628.5(XPC):c.2514+9A>G rs756795578
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter) rs370126012
NM_004628.5(XPC):c.2605A>G (p.Ser869Gly) rs1574946666
NM_004628.5(XPC):c.2633C>T (p.Ala878Val) rs183167499
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.537-16dup rs755812525
NM_004628.5(XPC):c.537-8_537-5del rs1210551886
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.