ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group C

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 300
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.1881T>A (p.Ala627=) rs2958057 1.00000
NM_004628.5(XPC):c.*684G>C rs1126547 0.88734
NM_004628.5(XPC):c.2605-40A>G rs2733532 0.65805
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_004628.5(XPC):c.2251-6A>C rs2279017 0.64290
NM_004628.5(XPC):c.-27G>C rs2607775 0.42063
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.*96C>G rs2229090 0.22489
NM_004628.5(XPC):c.1496C>T (p.Ala499Val) rs2228000 0.21224
NM_004628.5(XPC):c.*618A>G rs2470458 0.16965
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 0.02300
NM_004628.5(XPC):c.300G>A (p.Arg100=) rs2228002 0.02215
NM_004628.5(XPC):c.142C>T (p.Leu48Phe) rs2229089 0.02104
NM_004628.5(XPC):c.46C>G (p.Leu16Val) rs1870134 0.01876
NM_004628.5(XPC):c.*192T>C rs3731178 0.01085
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_004628.5(XPC):c.2028C>T (p.Tyr676=) rs2228004 0.00805
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00740
NM_004628.5(XPC):c.1841T>C (p.Phe614Ser) rs144766677 0.00666
NM_004628.5(XPC):c.860T>G (p.Phe287Cys) rs35629274 0.00642
NM_004628.4(XPC):c.-71C>T rs567196401 0.00511
NM_004628.5(XPC):c.1734C>A (p.Val578=) rs3731131 0.00479
NM_004628.5(XPC):c.1443G>T (p.Lys481Asn) rs182616621 0.00437
NM_004628.5(XPC):c.780-15C>T rs3731116 0.00344
NM_004628.5(XPC):c.872C>G (p.Ser291Cys) rs184879571 0.00304
NM_004628.5(XPC):c.2066C>T (p.Thr689Met) rs3731152 0.00294
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln) rs3731177 0.00264
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.303C>T (p.Asp101=) rs41545713 0.00140
NM_004628.5(XPC):c.1497G>A (p.Ala499=) rs150344169 0.00123
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys) rs183238369 0.00120
NM_004628.5(XPC):c.2250+6G>A rs201446851 0.00101
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.2421-11T>C rs3731167 0.00070
NM_004628.5(XPC):c.1539G>C (p.Met513Ile) rs3731130 0.00064
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_004628.4(XPC):c.-58C>T rs573720507 0.00051
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.1250C>T (p.Pro417Leu) rs376830678 0.00034
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_004628.4(XPC):c.-82C>G rs768047123 0.00014
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.*452G>A rs554938831 0.00010
NM_004628.5(XPC):c.1984G>A (p.Glu662Lys) rs372048184 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.*156G>A rs121965092 0.00009
NM_004628.5(XPC):c.*792A>G rs776547561 0.00009
NM_004628.5(XPC):c.1133G>A (p.Arg378Lys) rs533121927 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.1616A>G (p.Glu539Gly) rs563236303 0.00008
NM_004628.5(XPC):c.536+11G>T rs182782193 0.00008
NM_004628.5(XPC):c.102G>A (p.Glu34=) rs72561774 0.00007
NM_004628.5(XPC):c.2621C>T (p.Pro874Leu) rs375859472 0.00007
NM_004628.5(XPC):c.1268G>A (p.Arg423Gln) rs376808339 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.*648C>T rs1015682387 0.00005
NM_004628.5(XPC):c.105T>A (p.Asp35Glu) rs202128104 0.00005
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00005
NM_004628.5(XPC):c.1246C>T (p.Arg416Cys) rs369928352 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.2137C>T (p.Arg713Cys) rs374783706 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.*133G>A rs377250919 0.00004
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.147C>T (p.Ser49=) rs376018905 0.00004
NM_004628.5(XPC):c.2514+6C>T rs367800362 0.00004
NM_004628.5(XPC):c.736C>T (p.Pro246Ser) rs587778761 0.00004
NM_004628.5(XPC):c.755A>G (p.Tyr252Cys) rs587778760 0.00004
NM_004628.5(XPC):c.919C>T (p.Arg307Trp) rs367961191 0.00004
NM_004628.5(XPC):c.134A>G (p.Lys45Arg) rs779117189 0.00003
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) rs374117852 0.00003
NM_004628.5(XPC):c.2174G>A (p.Arg725Gln) rs567932695 0.00003
NM_004628.5(XPC):c.2251-7G>A rs756300837 0.00003
NM_004628.5(XPC):c.2525A>G (p.Lys842Arg) rs559844668 0.00003
NM_004628.5(XPC):c.26G>T (p.Gly9Val) rs376802950 0.00003
NM_004628.5(XPC):c.574A>G (p.Arg192Gly) rs200485886 0.00003
NM_004628.5(XPC):c.622-2A>C rs201940931 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.205G>C (p.Gly69Arg) rs533660155 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.597A>C (p.Lys199Asn) rs587778759 0.00002
NM_004628.5(XPC):c.718C>T (p.Arg240Cys) rs552222088 0.00002
NM_000400.4(ERCC2):c.1238-1199T>C rs1249549942 0.00001
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.1229A>G (p.Glu410Gly) rs587778762 0.00001
NM_004628.5(XPC):c.1420C>T (p.Gln474Ter) rs776865296 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.1947G>A (p.Leu649=) rs764572758 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.2020G>T (p.Ala674Ser) rs374888544 0.00001
NM_004628.5(XPC):c.2033+4C>T rs753195190 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.2596G>A (p.Gly866Arg) rs751759776 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.299+1G>A rs1553607744 0.00001
NM_004628.5(XPC):c.362del (p.Asp121fs) rs753506183 0.00001
NM_004628.5(XPC):c.392A>C (p.Asn131Thr) rs747522884 0.00001
NM_004628.5(XPC):c.464G>A (p.Arg155Gln) rs767501069 0.00001
NM_004628.5(XPC):c.525_526del (p.Glu177fs) rs1273295928 0.00001
NM_004628.5(XPC):c.537-1G>C rs1326646197 0.00001
NM_004628.5(XPC):c.621+1G>A rs1399465960 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.728G>A (p.Arg243Lys) rs762480645 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.806C>G (p.Ala269Gly) rs899696695 0.00001
NM_004628.5(XPC):c.940C>T (p.Arg314Trp) rs914274804 0.00001
Multiple alleles
NM_004628.4(XPC):c.-55G>T rs142935792
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>A rs2470352
NM_004628.5(XPC):c.*611T>C rs2470352
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_004628.5(XPC):c.103+1G>A rs1423398589
NM_004628.5(XPC):c.103+2T>A
NM_004628.5(XPC):c.103+2T>G rs1553608616
NM_004628.5(XPC):c.104-2A>G rs1696679400
NM_004628.5(XPC):c.1067_1077del (p.Asn356fs) rs2470261172
NM_004628.5(XPC):c.1102C>T (p.Gln368Ter) rs2470261046
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.1261_1263delinsC (p.Glu421fs)
NM_004628.5(XPC):c.1266del (p.Arg423fs) rs2125025992
NM_004628.5(XPC):c.1288dup (p.Tyr430fs) rs2470259784
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.1290_1295del (p.Tyr430_Glu432delinsTer) rs1448891857
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) rs1696028787
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) rs2470258893
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) rs1696675107
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter) rs746250060
NM_004628.5(XPC):c.1569A>C (p.Arg523Ser)
NM_004628.5(XPC):c.1593G>A (p.Trp531Ter) rs2470257940
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.173del (p.Arg58fs)
NM_004628.5(XPC):c.1750_1751del (p.Arg584fs) rs752030576
NM_004628.5(XPC):c.1752_1756del (p.Tyr585fs) rs2470256902
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys) rs749681216
NM_004628.5(XPC):c.1769del (p.Met590fs) rs2470256823
NM_004628.5(XPC):c.1798dup (p.Ala600fs) rs2470256704
NM_004628.5(XPC):c.1872+1G>A rs1559374923
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.1898del (p.Pro633fs) rs1695913328
NM_004628.5(XPC):c.1934del (p.Pro645fs) rs1553605497
NM_004628.5(XPC):c.1939_1942del (p.Tyr647fs) rs2470251738
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.1969G>T (p.Glu657Ter) rs759561565
NM_004628.5(XPC):c.1A>T (p.Met1Leu) rs763678756
NM_004628.5(XPC):c.2010T>A (p.Cys670Ter) rs781023624
NM_004628.5(XPC):c.2014G>C (p.Gly672Arg)
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 rs2470238559
NM_004628.5(XPC):c.2047_2048del (p.Thr683fs) rs1574954584
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+18dup rs3731153
NM_004628.5(XPC):c.2115+1G>C rs2470237973
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) rs2470227583
NM_004628.5(XPC):c.2176_2192del (p.Glu726fs) rs2470227355
NM_004628.5(XPC):c.218_219insT (p.Lys73fs) rs2470304057
NM_004628.5(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004628.5(XPC):c.2205C>A (p.Tyr735Ter)
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 rs746319045
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.2263G>T (p.Glu755Ter) rs776361955
NM_004628.5(XPC):c.2287del (p.Leu763fs) rs1553604559
NM_004628.5(XPC):c.2301del (p.Met767fs) rs2470225927
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.2420+2T>C rs778987248
NM_004628.5(XPC):c.2421-2A>G rs2470222942
NM_004628.5(XPC):c.2421_2440del20 (p.Thr808fs) rs2470222783
NM_004628.5(XPC):c.2432_2435dup (p.Val813fs) rs2470222842
NM_004628.5(XPC):c.2451_2461delinsT (p.Lys818fs) rs2125008340
NM_004628.5(XPC):c.2515A>T (p.Lys839Ter) rs765684436
NM_004628.5(XPC):c.2544G>A (p.Trp848Ter) rs1317050260
NM_004628.5(XPC):c.2552dup (p.Ala852fs) rs2470219549
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter) rs370126012
NM_004628.5(XPC):c.2604+2T>A
NM_004628.5(XPC):c.2605-2A>G rs1553604251
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.300-2A>G
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.385dup (p.Ser129fs) rs2470295662
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.398G>A (p.Trp133Ter)
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) rs778940656
NM_004628.5(XPC):c.515dup (p.Ala173fs) rs1553607144
NM_004628.5(XPC):c.524_525dup (p.Arg176fs) rs1696466639
NM_004628.5(XPC):c.52A>C (p.Ser18Arg) rs587778757
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.669_670del (p.Ile223fs) rs1696343406
NM_004628.5(XPC):c.673_692dup (p.Ile232fs) rs2470281037
NM_004628.5(XPC):c.779+12C>G rs754591857
NM_004628.5(XPC):c.779+1G>A rs975121308
NM_004628.5(XPC):c.780-1G>T
NM_004628.5(XPC):c.780-2A>G rs1696314718
NM_004628.5(XPC):c.780-2A>T rs1696314718
NM_004628.5(XPC):c.7C>T (p.Arg3Trp)
NM_004628.5(XPC):c.856A>T (p.Arg286Ter) rs2470278370
NM_004628.5(XPC):c.861dup (p.Ala288fs) rs2470278321
NM_004628.5(XPC):c.90GGA[4] (p.Glu34del) rs750450365
NM_004628.5(XPC):c.90GGA[6] (p.Glu34dup) rs750450365
NM_004628.5(XPC):c.915dup (p.Leu306fs) rs1553605973
NM_004628.5(XPC):c.940del (p.Arg314fs)
NM_004628.5(XPC):c.958C>T (p.Gln320Ter) rs867461743
NM_004628.5(XPC):c.977C>G (p.Ser326Ter) rs924205965
NM_004628.5(XPC):c.990+1G>A rs2470264146
NM_004628.5(XPC):c.991-2A>C rs1553605894
NM_004628.5(XPC):c.991-2A>G rs1553605894
NM_004628.5(XPC):c.992del rs2470261796

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.