ClinVar Miner

List of variants in gene XPC studied for Xeroderma pigmentosum, group C

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 250
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.1881T>A (p.Ala627=) rs2958057 1.00000
NM_004628.5(XPC):c.2605-40A>G rs2733532 0.65805
NM_004628.5(XPC):c.2251-6A>C rs2279017 0.64290
NM_004628.5(XPC):c.2604+28C>G rs2733534 0.41913
NM_004628.5(XPC):c.621+44C>G rs3729587 0.34174
NM_004628.5(XPC):c.2061G>A (p.Arg687=) rs2227998 0.26212
NM_004628.5(XPC):c.1496C>T (p.Ala499Val) rs2228000 0.21224
NM_004628.5(XPC):c.901-22A>G rs3731125 0.07731
NM_004628.5(XPC):c.1475G>A (p.Arg492His) rs2227999 0.03986
NM_004628.5(XPC):c.622-16C>G rs3731111 0.02487
NM_004628.5(XPC):c.300G>A (p.Arg100=) rs2228002 0.02396
NM_004628.5(XPC):c.142C>T (p.Leu48Phe) rs2229089 0.02177
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_004628.5(XPC):c.2028C>T (p.Tyr676=) rs2228004 0.00805
NM_004628.5(XPC):c.1841T>C (p.Phe614Ser) rs144766677 0.00716
NM_004628.5(XPC):c.860T>G (p.Phe287Cys) rs35629274 0.00642
NM_004628.5(XPC):c.1734C>A (p.Val578=) rs3731131 0.00479
NM_004628.5(XPC):c.1443G>T (p.Lys481Asn) rs182616621 0.00456
NM_004628.5(XPC):c.780-15C>T rs3731116 0.00344
NM_004628.5(XPC):c.2066C>T (p.Thr689Met) rs3731152 0.00315
NM_004628.5(XPC):c.872C>G (p.Ser291Cys) rs184879571 0.00304
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.*624A>C rs548142411 0.00144
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.303C>T (p.Asp101=) rs41545713 0.00095
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.1539G>C (p.Met513Ile) rs3731130 0.00064
NM_004628.5(XPC):c.1531A>C (p.Lys511Gln) rs6413541 0.00052
NM_004628.5(XPC):c.*270A>G rs564228132 0.00050
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.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.2251-1G>C rs754673606 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.147C>T (p.Ser49=) rs376018905 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.877C>T (p.Arg293Ter) rs373519125 0.00005
NM_004628.5(XPC):c.*682A>G rs187666722 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.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.622-2A>C rs201940931 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.1103_1104del (p.Gln368fs) rs1450238352 0.00002
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.2033+1G>A rs764480429 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.105T>A (p.Asp35Glu) rs202128104 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.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.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.2420+2T>C rs778987248 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.658C>T (p.Arg220Ter) rs745679643 0.00001
NM_004628.5(XPC):c.706A>G (p.Ile236Val) rs750767012 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.940C>T (p.Arg314Trp) rs914274804 0.00001
Multiple alleles
NM_004628.4(XPC):c.621_622ins83 (p.?)
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.1000C>T (p.Pro334Ser) rs200338014
NM_004628.5(XPC):c.104-2A>G rs1696679400
NM_004628.5(XPC):c.1067_1077del (p.Asn356fs)
NM_004628.5(XPC):c.1102C>T (p.Gln368Ter)
NM_004628.5(XPC):c.1143dup (p.Lys382fs) rs1553605871
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.1266del (p.Arg423fs) rs2125025992
NM_004628.5(XPC):c.1288dup (p.Tyr430fs)
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.1306del (p.Ser436fs) rs1253035928
NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer) rs1553605795
NM_004628.5(XPC):c.1336G>T (p.Glu446Ter)
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.1381G>T (p.Glu461Ter) rs754197041
NM_004628.5(XPC):c.1399C>T (p.Gln467Ter)
NM_004628.5(XPC):c.1420C>T (p.Gln474Ter)
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.1474C>A (p.Arg492Ser) rs373883060
NM_004628.5(XPC):c.147del (p.Val51fs) rs1553607773
NM_004628.5(XPC):c.1539G>A (p.Met513Ile) rs3731130
NM_004628.5(XPC):c.155C>G (p.Ser52Ter)
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter) rs746250060
NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)
NM_004628.5(XPC):c.1634T>C (p.Val545Ala) rs1696004839
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
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.1677C>G (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.1752_1756del (p.Tyr585fs)
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
NM_004628.5(XPC):c.1769del (p.Met590fs)
NM_004628.5(XPC):c.1798dup (p.Ala600fs)
NM_004628.5(XPC):c.1872+1G>A
NM_004628.5(XPC):c.1872+1G>C rs1559374923
NM_004628.5(XPC):c.1873-10G>T rs886058049
NM_004628.5(XPC):c.1894C>T (p.Gln632Ter) rs3731139
NM_004628.5(XPC):c.1897C>T (p.Pro633Ser) rs749104732
NM_004628.5(XPC):c.1934del (p.Pro645fs) rs1553605497
NM_004628.5(XPC):c.1939_1942del (p.Tyr647fs)
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.1969G>T (p.Glu657Ter)
NM_004628.5(XPC):c.2010T>A (p.Cys670Ter) rs781023624
NM_004628.5(XPC):c.2033+2T>G rs794729655
NM_004628.5(XPC):c.2033+5G>A rs374329989
NM_004628.5(XPC):c.2034-2A>G
NM_004628.5(XPC):c.2047_2048del (p.Thr683fs)
NM_004628.5(XPC):c.2050_2051del (p.Leu684fs) rs765641981
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.2115+1G>C
NM_004628.5(XPC):c.2116-1G>A rs1553604620
NM_004628.5(XPC):c.2126_2129del (p.Gly709fs) rs1574950526
NM_004628.5(XPC):c.2127del (p.Ser711fs) rs1695569595
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.2153del (p.Arg718fs)
NM_004628.5(XPC):c.2176_2192del (p.Glu726fs)
NM_004628.5(XPC):c.218_219insT (p.Lys73fs)
NM_004628.5(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004628.5(XPC):c.2215GAG[1] (p.Glu740del) rs776958968
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs) rs1559369237
NM_004628.5(XPC):c.2218G>T (p.Glu740Ter) rs770308917
NM_004628.5(XPC):c.2250+1G>A
NM_004628.5(XPC):c.2251-2A>G rs1553604570
NM_004628.5(XPC):c.2251-37C>G rs2470353
NM_004628.5(XPC):c.2262del (p.Asn754fs) rs786205206
NM_004628.5(XPC):c.2287del (p.Leu763fs) rs1553604559
NM_004628.5(XPC):c.2301del (p.Met767fs)
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.2418C>A (p.Pro806=) rs199828421
NM_004628.5(XPC):c.2421-2A>G
NM_004628.5(XPC):c.2421_2440del20 (p.Thr808fs)
NM_004628.5(XPC):c.2432_2435dup (p.Val813fs)
NM_004628.5(XPC):c.2515A>T (p.Lys839Ter)
NM_004628.5(XPC):c.2552dup (p.Ala852fs)
NM_004628.5(XPC):c.2596G>A (p.Gly866Arg) rs751759776
NM_004628.5(XPC):c.2605-2A>G
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.362del (p.Asp121fs)
NM_004628.5(XPC):c.368del (p.Asn123fs) rs1553607419
NM_004628.5(XPC):c.385dup (p.Ser129fs)
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.395_398del (p.Asp132fs) rs1696563531
NM_004628.5(XPC):c.409dup (p.Glu137fs) rs1208223013
NM_004628.5(XPC):c.413-24A>G rs794729657
NM_004628.5(XPC):c.413-9T>A rs794729656
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.463C>T (p.Arg155Ter) rs755825264
NM_004628.5(XPC):c.470_471del (p.Leu157fs) rs1574972784
NM_004628.5(XPC):c.514C>T (p.Gln172Ter)
NM_004628.5(XPC):c.515dup (p.Ala173fs) rs1553607144
NM_004628.5(XPC):c.524_525dup (p.Arg176fs) rs1696466639
NM_004628.5(XPC):c.525_526del (p.Glu177fs)
NM_004628.5(XPC):c.537-1G>C rs1326646197
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+1G>A
NM_004628.5(XPC):c.621+2dup rs1553606975
NM_004628.5(XPC):c.622-2A>G rs201940931
NM_004628.5(XPC):c.669_670del (p.Ile223fs) rs1696343406
NM_004628.5(XPC):c.673_692dup (p.Ile232fs)
NM_004628.5(XPC):c.779+12C>G rs754591857
NM_004628.5(XPC):c.779+1G>A rs975121308
NM_004628.5(XPC):c.780-2A>G
NM_004628.5(XPC):c.780-2A>T rs1696314718
NM_004628.5(XPC):c.806C>G (p.Ala269Gly)
NM_004628.5(XPC):c.856A>T (p.Arg286Ter)
NM_004628.5(XPC):c.861dup (p.Ala288fs)
NM_004628.5(XPC):c.915dup (p.Leu306fs) rs1553605973
NM_004628.5(XPC):c.919C>T (p.Arg307Trp)
NM_004628.5(XPC):c.958C>T (p.Gln320Ter) rs867461743
NM_004628.5(XPC):c.977C>G (p.Ser326Ter)
NM_004628.5(XPC):c.990+1G>A
NM_004628.5(XPC):c.991-2A>C
NM_004628.5(XPC):c.991-2A>G rs1553605894
NM_004628.5(XPC):c.992del

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