ClinVar Miner

List of variants in gene XPC reported as uncertain significance for DNA repair disease

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP
NM_004628.4(XPC):c.*156G>A rs121965092
NM_004628.4(XPC):c.*270A>G rs564228132
NM_004628.4(XPC):c.*411dupA rs886058047
NM_004628.4(XPC):c.*428G>A rs886058046
NM_004628.4(XPC):c.*452G>A rs554938831
NM_004628.4(XPC):c.*483A>C rs886058045
NM_004628.4(XPC):c.*756T>C rs556973888
NM_004628.4(XPC):c.*792A>G rs776547561
NM_004628.4(XPC):c.*89G>C rs5031057
NM_004628.4(XPC):c.-4C>T rs200570610
NM_004628.4(XPC):c.-55G>T rs142935792
NM_004628.4(XPC):c.-58C>T rs573720507
NM_004628.4(XPC):c.-71C>T rs567196401
NM_004628.4(XPC):c.101_103dup (p.Glu34_Asp35insGlu) rs750450365
NM_004628.4(XPC):c.1131C>T (p.Cys377=) rs187340581
NM_004628.4(XPC):c.1185G>A (p.Lys395=) rs886058051
NM_004628.4(XPC):c.1229A>G (p.Glu410Gly) rs587778762
NM_004628.4(XPC):c.1268G>A (p.Arg423Gln) rs376808339
NM_004628.4(XPC):c.134A>G (p.Lys45Arg) rs779117189
NM_004628.4(XPC):c.1464_1466delTGG (p.Gly489del) rs1553605750
NM_004628.4(XPC):c.1465_1476del12 (p.Gly489_Arg492del) rs1553605733
NM_004628.4(XPC):c.1469G>A (p.Ser490Asn) rs886058050
NM_004628.4(XPC):c.1539G>A (p.Met513Ile) rs3731130
NM_004628.4(XPC):c.1616A>G (p.Glu539Gly) rs563236303
NM_004628.4(XPC):c.1673_1675dup (p.Cys558_Tyr559insCys) rs1553605670
NM_004628.4(XPC):c.1823G>A (p.Arg608Lys) rs768979551
NM_004628.4(XPC):c.1873-10G>T rs886058049
NM_004628.4(XPC):c.1984G>A (p.Glu662Lys) rs372048184
NM_004628.4(XPC):c.2011C>T (p.Arg671Cys) rs771891932
NM_004628.4(XPC):c.2033+4C>T rs753195190
NM_004628.4(XPC):c.2033+5G>A rs374329989
NM_004628.4(XPC):c.2089_2091dup (p.Val697_Arg698insVal) rs1423935768
NM_004628.4(XPC):c.2138G>A (p.Arg713His) rs778769039
NM_004628.4(XPC):c.2161G>A (p.Glu721Lys) rs886058048
NM_004628.4(XPC):c.2194dup (p.Leu732Profs) rs1309116467
NM_004628.4(XPC):c.2218_2220delGAG (p.Glu740del) rs776958968
NM_004628.4(XPC):c.2515A>G (p.Lys839Glu) rs765684436
NM_004628.4(XPC):c.2537G>C (p.Gly846Ala) rs55779831
NM_004628.4(XPC):c.2591G>A (p.Arg864His) rs776645102
NM_004628.4(XPC):c.2605-2A>T rs1553604251
NM_004628.4(XPC):c.2621C>T (p.Pro874Leu) rs375859472
NM_004628.4(XPC):c.262A>G (p.Ile88Val) rs200197232
NM_004628.4(XPC):c.2633C>G (p.Ala878Gly) rs183167499
NM_004628.4(XPC):c.2633delC (p.Ala878Glufs) rs1553604236
NM_004628.4(XPC):c.2703delT (p.Ala902Profs) rs1280251289
NM_004628.4(XPC):c.2722C>T (p.Arg908Ter) rs199527751
NM_004628.4(XPC):c.2727_2729delAGA (p.Glu909del) rs751026244
NM_004628.4(XPC):c.2765_2773del9 (p.Lys922_Lys924del) rs1553604206
NM_004628.4(XPC):c.2782A>T (p.Lys928Ter) rs3731177
NM_004628.4(XPC):c.351_352insGTA (p.Thr117_Met118insVal) rs1358623305
NM_004628.4(XPC):c.37G>C (p.Gly13Arg) rs201273381
NM_004628.4(XPC):c.413-4A>G rs367977379
NM_004628.4(XPC):c.478G>T (p.Val160Leu) rs587778763
NM_004628.4(XPC):c.52A>C (p.Ser18Arg) rs587778757
NM_004628.4(XPC):c.537-16dupT rs755812525
NM_004628.4(XPC):c.566_567delAT (p.Tyr189Serfs) rs752088918
NM_004628.4(XPC):c.597A>C (p.Lys199Asn) rs587778759
NM_004628.4(XPC):c.621+2dup rs1553606975
NM_004628.4(XPC):c.718C>T (p.Arg240Cys) rs552222088
NM_004628.4(XPC):c.736C>T (p.Pro246Ser) rs587778761
NM_004628.4(XPC):c.755A>G (p.Tyr252Cys) rs587778760
NM_004628.4(XPC):c.860T>G (p.Phe287Cys) rs35629274

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