ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group C by Counsyl

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.*96C>G rs2229090 0.22357
NM_004628.5(XPC):c.*156G>A rs121965092 0.00006
NM_004628.5(XPC):c.2633C>G (p.Ala878Gly) rs183167499 0.00006
NM_004628.5(XPC):c.2138G>A (p.Arg713His) rs778769039 0.00005
NM_004628.5(XPC):c.877C>T (p.Arg293Ter) rs373519125 0.00005
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.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.622-2A>C rs201940931 0.00003
NM_004628.5(XPC):c.755A>G (p.Tyr252Cys) rs587778760 0.00003
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 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.1229A>G (p.Glu410Gly) rs587778762 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004628.5(XPC):c.1A>G (p.Met1Val) rs763678756 0.00001
NM_004628.5(XPC):c.2011C>T (p.Arg671Cys) rs771891932 0.00001
NM_004628.5(XPC):c.2033+4C>T rs753195190 0.00001
NM_004628.5(XPC):c.2537G>C (p.Gly846Ala) rs55779831 0.00001
NM_004628.5(XPC):c.2703del (p.Ala902fs) rs1280251289 0.00001
NM_004628.5(XPC):c.658C>T (p.Arg220Ter) rs745679643 0.00001
NM_004628.5(XPC):c.739C>T (p.Arg247Ter) rs764321665 0.00001
NM_004628.5(XPC):c.779+1G>T rs975121308 0.00001
NM_004628.5(XPC):c.103+1G>A rs1423398589
NM_004628.5(XPC):c.103+2T>G rs1553608616
NM_004628.5(XPC):c.1143dup (p.Lys382fs) rs1553605871
NM_004628.5(XPC):c.1185G>A (p.Lys395=) rs886058051
NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer) rs1553605813
NM_004628.5(XPC):c.128del (p.Pro43fs) rs1260189637
NM_004628.5(XPC):c.1292_1293del (p.Lys431fs) rs794729654
NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter) rs1553605805
NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer) rs1553605795
NM_004628.5(XPC):c.1381G>T (p.Glu461Ter) rs754197041
NM_004628.5(XPC):c.1421dup (p.Arg475fs) rs1553605761
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.147del (p.Val51fs) rs1553607773
NM_004628.5(XPC):c.1539G>A (p.Met513Ile) rs3731130
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter) rs746250060
NM_004628.5(XPC):c.1673_1675dup (p.Cys558dup) rs1553605670
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter) rs767569346
NM_004628.5(XPC):c.1686del (p.Thr563fs) rs1553605655
NM_004628.5(XPC):c.1750_1751del (p.Arg584fs) rs752030576
NM_004628.5(XPC):c.1873-10G>T rs886058049
NM_004628.5(XPC):c.1934del (p.Pro645fs) rs1553605497
NM_004628.5(XPC):c.1A>T (p.Met1Leu) rs763678756
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.2101G>T (p.Glu701Ter) rs1553605023
NM_004628.5(XPC):c.2116-1G>A rs1553604620
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004628.5(XPC):c.2218G>T (p.Glu740Ter) rs770308917
NM_004628.5(XPC):c.2251-2A>G rs1553604570
NM_004628.5(XPC):c.2287del (p.Leu763fs) rs1553604559
NM_004628.5(XPC):c.2317C>T (p.Gln773Ter) rs1281090187
NM_004628.5(XPC):c.2331dup (p.Asn778fs) rs1553604552
NM_004628.5(XPC):c.2336dup (p.His780fs) rs1553604549
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.299+1G>A rs1553607744
NM_004628.5(XPC):c.342_343del (p.Ala116fs) rs1228981894
NM_004628.5(XPC):c.351_352insGTA (p.Thr117_Met118insVal) rs1358623305
NM_004628.5(XPC):c.368del (p.Asn123fs) rs1553607419
NM_004628.5(XPC):c.409dup (p.Glu137fs) rs1208223013
NM_004628.5(XPC):c.420_423del (p.Glu141fs) rs1330667099
NM_004628.5(XPC):c.445_446del (p.Glu149fs) rs1402162002
NM_004628.5(XPC):c.515dup (p.Ala173fs) rs1553607144
NM_004628.5(XPC):c.52A>C (p.Ser18Arg) rs587778757
NM_004628.5(XPC):c.537-1G>C rs1326646197
NM_004628.5(XPC):c.55C>T (p.Gln19Ter) rs1553608637
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_004628.5(XPC):c.618_619del (p.His206fs) rs1553606979
NM_004628.5(XPC):c.621+2dup rs1553606975
NM_004628.5(XPC):c.622-2A>G rs201940931
NM_004628.5(XPC):c.779+1G>A rs975121308
NM_004628.5(XPC):c.90GGA[6] (p.Glu34dup) rs750450365
NM_004628.5(XPC):c.915dup (p.Leu306fs) rs1553605973
NM_004628.5(XPC):c.958C>T (p.Gln320Ter) rs867461743
NM_004628.5(XPC):c.991-2A>G rs1553605894

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