ClinVar Miner

List of variants reported as uncertain significance for Xeroderma pigmentosum, group C by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.872C>G (p.Ser291Cys) rs184879571 0.00304
NM_004628.5(XPC):c.*624A>C rs548142411 0.00144
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.*89G>C rs5031057 0.00073
NM_004628.5(XPC):c.37G>C (p.Gly13Arg) rs201273381 0.00057
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.779+11C>T rs199838876 0.00033
NM_004628.5(XPC):c.*756T>C rs556973888 0.00015
NM_004628.5(XPC):c.1781G>A (p.Arg594His) rs147900621 0.00014
NM_004628.5(XPC):c.1022C>T (p.Ala341Val) rs192285219 0.00013
NM_004628.5(XPC):c.1984G>A (p.Glu662Lys) rs372048184 0.00011
NM_004628.5(XPC):c.*452G>A rs554938831 0.00010
NM_004628.5(XPC):c.413-4A>G rs367977379 0.00010
NM_004628.5(XPC):c.*792A>G rs776547561 0.00009
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_004628.4(XPC):c.-82C>G rs768047123 0.00008
NM_004628.5(XPC):c.102G>A (p.Glu34=) rs72561774 0.00007
NM_004628.5(XPC):c.1268G>A (p.Arg423Gln) rs376808339 0.00006
NM_004628.5(XPC):c.2137C>T (p.Arg713Cys) rs374783706 0.00006
NM_004628.5(XPC):c.536+11G>T rs182782193 0.00006
NM_004628.5(XPC):c.*648C>T rs1015682387 0.00005
NM_004628.5(XPC):c.17C>G (p.Ala6Gly) rs770358796 0.00005
NM_004628.5(XPC):c.1823G>A (p.Arg608Lys) rs768979551 0.00005
NM_004628.5(XPC):c.2138G>A (p.Arg713His) rs778769039 0.00005
NM_004628.5(XPC):c.*682A>G rs187666722 0.00004
NM_004628.5(XPC):c.-4C>T rs200570610 0.00004
NM_004628.5(XPC):c.1616A>G (p.Glu539Gly) rs563236303 0.00004
NM_004628.5(XPC):c.2251-7G>A rs756300837 0.00004
NM_004628.5(XPC):c.2514+6C>T rs367800362 0.00004
NM_004628.5(XPC):c.574A>G (p.Arg192Gly) rs200485886 0.00004
NM_004628.5(XPC):c.1131C>T (p.Cys377=) rs187340581 0.00002
NM_004628.5(XPC):c.2174G>A (p.Arg725Gln) rs567932695 0.00002
NM_004628.5(XPC):c.2591G>A (p.Arg864His) rs776645102 0.00002
NM_004628.4(XPC):c.-84C>T rs747342888 0.00001
NM_004628.5(XPC):c.1023G>A (p.Ala341=) rs370847346 0.00001
NM_004628.5(XPC):c.1469G>A (p.Ser490Asn) rs886058050 0.00001
NM_004628.5(XPC):c.1913T>C (p.Ile638Thr) rs752133677 0.00001
NM_004628.5(XPC):c.1A>G (p.Met1Val) rs763678756 0.00001
NM_004628.5(XPC):c.2020G>T (p.Ala674Ser) rs374888544 0.00001
NM_004628.5(XPC):c.2351G>A (p.Arg784His) rs753463306 0.00001
NM_004628.5(XPC):c.2412C>T (p.Ser804=) rs752120059 0.00001
NM_004628.5(XPC):c.2515A>G (p.Lys839Glu) rs765684436 0.00001
NM_004628.5(XPC):c.262A>G (p.Ile88Val) rs200197232 0.00001
NM_004628.5(XPC):c.940C>T (p.Arg314Trp) rs914274804 0.00001
NM_004628.4(XPC):c.-55G>T rs142935792
NM_004628.5(XPC):c.*139G>T rs773332345
NM_004628.5(XPC):c.*483A>C rs886058045
NM_004628.5(XPC):c.*611T>C rs2470352
NM_004628.5(XPC):c.1185G>A (p.Lys395=) rs886058051
NM_004628.5(XPC):c.1246C>G (p.Arg416Gly) rs369928352
NM_004628.5(XPC):c.134A>G (p.Lys45Arg) rs779117189
NM_004628.5(XPC):c.1365C>T (p.Pro455=) rs753527196
NM_004628.5(XPC):c.1474C>A (p.Arg492Ser) rs373883060
NM_004628.5(XPC):c.1539G>A (p.Met513Ile) rs3731130
NM_004628.5(XPC):c.1634T>C (p.Val545Ala) rs1696004839
NM_004628.5(XPC):c.1873-10G>T rs886058049
NM_004628.5(XPC):c.1942G>T (p.Ala648Ser) rs1332080043
NM_004628.5(XPC):c.1947G>A (p.Leu649=) rs764572758
NM_004628.5(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004628.5(XPC):c.2418C>A (p.Pro806=) rs199828421
NM_004628.5(XPC):c.2596G>A (p.Gly866Arg) rs751759776
NM_004628.5(XPC):c.392A>C (p.Asn131Thr) rs747522884
NM_004628.5(XPC):c.393T>C (p.Asn131=) rs1696563827
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_004628.5(XPC):c.779+12C>G rs754591857

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.