ClinVar Miner

List of variants in gene XPC reported as uncertain significance for Xeroderma pigmentosum, group C

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Gene type:
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Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
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.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.2404G>A (p.Gly802Ser) rs200148127 0.00031
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.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.1984G>A (p.Glu662Lys) rs372048184 0.00011
NM_004628.5(XPC):c.*452G>A rs554938831 0.00010
NM_004628.5(XPC):c.203A>T (p.Asp68Val) rs56012223 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_004628.5(XPC):c.*156G>A rs121965092 0.00006
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.2633C>G (p.Ala878Gly) rs183167499 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.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.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.736C>T (p.Pro246Ser) rs587778761 0.00004
NM_004628.5(XPC):c.2621C>T (p.Pro874Leu) rs375859472 0.00003
NM_004628.5(XPC):c.597A>C (p.Lys199Asn) rs587778759 0.00003
NM_004628.5(XPC):c.728G>A (p.Arg243Lys) rs762480645 0.00003
NM_004628.5(XPC):c.755A>G (p.Tyr252Cys) rs587778760 0.00003
NM_004628.5(XPC):c.1131C>T (p.Cys377=) rs187340581 0.00002
NM_004628.5(XPC):c.1455G>T (p.Arg485Ser) rs368618553 0.00002
NM_004628.5(XPC):c.2174G>A (p.Arg725Gln) rs567932695 0.00002
NM_004628.5(XPC):c.2525A>G (p.Lys842Arg) rs559844668 0.00002
NM_004628.5(XPC):c.2591G>A (p.Arg864His) rs776645102 0.00002
NM_004628.5(XPC):c.2722C>T (p.Arg908Ter) rs199527751 0.00002
NM_004628.5(XPC):c.478G>T (p.Val160Leu) rs587778763 0.00002
NM_004628.5(XPC):c.718C>T (p.Arg240Cys) rs552222088 0.00002
NM_004628.5(XPC):c.1023G>A (p.Ala341=) rs370847346 0.00001
NM_004628.5(XPC):c.1229A>G (p.Glu410Gly) rs587778762 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.2011C>T (p.Arg671Cys) rs771891932 0.00001
NM_004628.5(XPC):c.2020G>T (p.Ala674Ser) rs374888544 0.00001
NM_004628.5(XPC):c.2033+4C>T rs753195190 0.00001
NM_004628.5(XPC):c.205G>C (p.Gly69Arg) rs533660155 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.2537G>C (p.Gly846Ala) rs55779831 0.00001
NM_004628.5(XPC):c.262A>G (p.Ile88Val) rs200197232 0.00001
NM_004628.5(XPC):c.2703del (p.Ala902fs) rs1280251289 0.00001
NM_004628.5(XPC):c.706A>G (p.Ile236Val) rs750767012 0.00001
NM_004628.5(XPC):c.940C>T (p.Arg314Trp) rs914274804 0.00001
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.1246C>T (p.Arg416Cys)
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.1464_1466del (p.Gly489del) rs1553605750
NM_004628.5(XPC):c.1465_1476del (p.Gly489_Arg492del) rs1553605733
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.1673_1675dup (p.Cys558dup) rs1553605670
NM_004628.5(XPC):c.1873-10G>T rs886058049
NM_004628.5(XPC):c.1942G>T (p.Ala648Ser) rs1332080043
NM_004628.5(XPC):c.1946T>C (p.Leu649Pro) rs1695909488
NM_004628.5(XPC):c.1947G>A (p.Leu649=) rs764572758
NM_004628.5(XPC):c.2033+5G>A rs374329989
NM_004628.5(XPC):c.2086GTG[3] (p.Val697_Arg698insVal) rs1423935768
NM_004628.5(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004628.5(XPC):c.2215GAG[1] (p.Glu740del) rs776958968
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.2605-2A>T rs1553604251
NM_004628.5(XPC):c.2633del (p.Ala878fs) rs1553604236
NM_004628.5(XPC):c.2724AGA[1] (p.Glu909del) rs751026244
NM_004628.5(XPC):c.2765_2773del (p.Lys922_Lys924del) rs1553604206
NM_004628.5(XPC):c.2782A>T (p.Lys928Ter) rs3731177
NM_004628.5(XPC):c.351_352insGTA (p.Thr117_Met118insVal) rs1358623305
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.621+2dup rs1553606975
NM_004628.5(XPC):c.779+12C>G rs754591857
NM_004628.5(XPC):c.806C>G (p.Ala269Gly)
NM_004628.5(XPC):c.919C>T (p.Arg307Trp)

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