ClinVar Miner

List of variants studied for Xeroderma pigmentosum

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ClinVar version:
Total variants: 428
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.*115T>C rs1043943 0.65275
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_004628.5(XPC):c.*96C>G rs2229090 0.22357
NM_024334.3(TMEM43):c.*779A>C rs13069 0.19544
NM_024334.3(TMEM43):c.*1424T>C rs10468 0.19535
NM_004628.5(XPC):c.*618A>G rs2470458 0.16965
NM_024334.3(TMEM43):c.*1374T>C rs8516 0.16859
NM_024334.3(TMEM43):c.*463A>G rs1043953 0.15711
NM_024334.3(TMEM43):c.*719G>T rs3796308 0.05531
NM_024334.3(TMEM43):c.*312A>C rs11920099 0.04223
NM_001204425.2(BIVM-ERCC5):c.1450+6027C>A rs4150248 0.03070
NM_024334.3(TMEM43):c.*277C>T rs11943 0.03059
NM_024334.3(TMEM43):c.*924T>C rs79741000 0.02523
NM_024334.3(TMEM43):c.*217G>A rs116757981 0.02517
NM_006502.3(POLH):c.*1563dup rs201071335 0.01967
NM_001204425.2(BIVM-ERCC5):c.1450+6024A>C rs74109690 0.01436
NM_024334.3(TMEM43):c.*1160A>G rs9842062 0.01099
NM_004628.5(XPC):c.*192T>C rs3731178 0.01085
NM_000122.2(ERCC3):c.-98A>G rs4150398 0.00933
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_004628.5(XPC):c.2066C>T (p.Thr689Met) rs3731152 0.00315
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_000400.4(ERCC2):c.417C>G (p.Ala139=) rs145239390 0.00287
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln) rs3731177 0.00285
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr) rs143049891 0.00270
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_000122.2(ERCC3):c.1008G>A (p.Gly336=) rs115924997 0.00248
NM_000400.4(ERCC2):c.699C>T (p.Phe233=) rs141816180 0.00248
NM_000400.4(ERCC2):c.687C>T (p.Ala229=) rs34021577 0.00234
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_004628.5(XPC):c.2232A>C (p.Pro744=) rs189619298 0.00221
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_000400.4(ERCC2):c.1832-6C>T rs1799789 0.00211
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_006502.3(POLH):c.1572A>C (p.Gln524His) rs138752565 0.00198
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_006502.3(POLH):c.2024C>A (p.Ser675Tyr) rs151095678 0.00178
NM_000107.3(DDB2):c.127+5T>G rs199965459 0.00148
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) rs145201970 0.00146
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_000400.4(ERCC2):c.2191-4G>A rs201840907 0.00143
NM_000107.3(DDB2):c.644T>C (p.Met215Thr) rs4647750 0.00133
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys) rs183238369 0.00126
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150 0.00125
NM_004628.5(XPC):c.1497G>A (p.Ala499=) rs150344169 0.00123
NM_000380.4(XPA):c.700G>T (p.Val234Leu) rs3176749 0.00118
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) rs138038607 0.00113
NM_004628.5(XPC):c.2250+6G>A rs201446851 0.00111
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr) rs148791570 0.00107
NM_000400.4(ERCC2):c.1266C>T (p.Asp422=) rs142702501 0.00102
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 0.00098
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904 0.00085
NM_004628.5(XPC):c.2496T>C (p.Ile832=) rs201597537 0.00083
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_000400.4(ERCC2):c.633C>T (p.Tyr211=) rs112910027 0.00073
NM_000400.4(ERCC2):c.138C>T (p.Thr46=) rs141391238 0.00068
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val) rs34517175 0.00068
NM_004628.5(XPC):c.37G>C (p.Gly13Arg) rs201273381 0.00057
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_006502.3(POLH):c.815T>C (p.Ile272Thr) rs147712217 0.00055
NM_004628.5(XPC):c.1531A>C (p.Lys511Gln) rs6413541 0.00052
NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp) rs149309991 0.00051
NM_000380.4(XPA):c.234A>G (p.Glu78=) rs144543144 0.00051
NM_000122.2(ERCC3):c.2334G>A (p.Lys778=) rs147499527 0.00050
NM_006502.3(POLH):c.738C>T (p.Leu246=) rs145530456 0.00049
NM_000122.2(ERCC3):c.1528-9G>A rs368660980 0.00048
NM_006502.3(POLH):c.2028C>T (p.Ala676=) rs140971385 0.00045
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773 0.00044
NM_006502.3(POLH):c.1181A>G (p.Lys394Arg) rs149030396 0.00043
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_000107.3(DDB2):c.1053T>C (p.Ile351=) rs61741581 0.00039
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr) rs138532294 0.00038
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn) rs143710107 0.00034
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_004628.5(XPC):c.779+11C>T rs199838876 0.00033
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val) rs142936491 0.00029
NM_006502.3(POLH):c.*4531_*4532del rs767288700 0.00029
NM_006502.3(POLH):c.1299C>A (p.Ala433=) rs140331414 0.00029
NM_000107.3(DDB2):c.1120G>A (p.Val374Met) rs148299549 0.00028
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly) rs116713511 0.00025
NM_000400.4(ERCC2):c.1842C>T (p.Tyr614=) rs148319713 0.00025
NM_006502.3(POLH):c.-5+3A>G rs9357415 0.00025
NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) rs376593226 0.00024
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00024
NM_000400.4(ERCC2):c.1278G>A (p.Pro426=) rs148469762 0.00023
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) rs145835916 0.00022
NM_000107.3(DDB2):c.674T>C (p.Val225Ala) rs202083037 0.00021
NM_000122.2(ERCC3):c.2064+5A>G rs372749473 0.00021
NM_000400.4(ERCC2):c.1119-5G>A rs369538318 0.00021
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=) rs138296474 0.00021
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135 0.00021
NM_006502.3(POLH):c.1473G>A (p.Gln491=) rs142864589 0.00021
NM_000400.4(ERCC2):c.1378-8C>T rs558250151 0.00019
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) rs200649435 0.00019
NM_000380.4(XPA):c.683G>A (p.Arg228Gln) rs1805160 0.00017
NM_000107.3(DDB2):c.59G>A (p.Arg20Lys) rs373622283 0.00016
NM_000122.2(ERCC3):c.2218-5G>A rs201054106 0.00016
NM_000400.4(ERCC2):c.1349G>A (p.Arg450His) rs146632315 0.00016
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr) rs1799792 0.00016
NM_000400.4(ERCC2):c.988C>T (p.Leu330=) rs146022050 0.00016
NM_000400.4(ERCC2):c.1518C>A (p.Ser506=) rs544159896 0.00015
NM_000400.4(ERCC2):c.1665+4C>T rs148416328 0.00015
NM_004628.5(XPC):c.1009G>A (p.Glu337Lys) rs541829970 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_005236.3(ERCC4):c.2517C>T (p.Pro839=) rs200715555 0.00014
NM_004628.5(XPC):c.1022C>T (p.Ala341Val) rs192285219 0.00013
NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=) rs368708674 0.00012
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg) rs201806429 0.00011
NM_000400.4(ERCC2):c.156G>A (p.Leu52=) rs202156896 0.00011
NM_000400.4(ERCC2):c.1962C>T (p.Phe654=) rs762985501 0.00011
NM_004628.5(XPC):c.1133G>A (p.Arg378Lys) rs533121927 0.00011
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000400.4(ERCC2):c.297C>T (p.Gly99=) rs200953364 0.00010
NM_004628.5(XPC):c.413-4A>G rs367977379 0.00010
NM_000400.4(ERCC2):c.1903-11C>T rs370777762 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_005236.3(ERCC4):c.1619C>T (p.Ser540Leu) rs368830992 0.00009
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=) rs373237850 0.00009
NM_005236.3(ERCC4):c.537A>G (p.Glu179=) rs373408411 0.00009
NM_000122.2(ERCC3):c.1053G>C (p.Val351=) rs373666495 0.00008
NM_000122.2(ERCC3):c.1155C>T (p.Asp385=) rs371396764 0.00008
NM_000380.4(XPA):c.599T>C (p.Leu200Ser) rs755803064 0.00008
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln) rs150000483 0.00008
NM_000400.4(ERCC2):c.873G>A (p.Gly291=) rs552090174 0.00008
NM_004628.5(XPC):c.2572A>G (p.Arg858Gly) rs779675386 0.00008
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_000107.3(DDB2):c.-31G>C rs375840702 0.00007
NM_000122.2(ERCC3):c.224C>T (p.Pro75Leu) rs553774995 0.00007
NM_000400.4(ERCC2):c.373C>T (p.Arg125Cys) rs372425466 0.00007
NM_004628.5(XPC):c.2730T>C (p.Asp910=) rs372394855 0.00007
NM_000107.3(DDB2):c.870T>C (p.Pro290=) rs376783024 0.00006
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
NM_000122.2(ERCC3):c.2106G>A (p.Ala702=) rs114508982 0.00006
NM_000122.2(ERCC3):c.429C>T (p.Leu143=) rs908044728 0.00006
NM_000122.2(ERCC3):c.694A>G (p.Thr232Ala) rs201383161 0.00006
NM_000380.4(XPA):c.773G>A (p.Arg258His) rs763929562 0.00006
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
NM_004628.5(XPC):c.2067G>A (p.Thr689=) rs765391700 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.8G>A (p.Arg3Gln) rs369735922 0.00006
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe) rs552142099 0.00006
NM_006502.3(POLH):c.413C>T (p.Ser138Leu) rs142827517 0.00006
NM_000122.2(ERCC3):c.385G>A (p.Val129Ile) rs145762413 0.00005
NM_000400.4(ERCC2):c.2128G>A (p.Val710Met) rs141808167 0.00005
NM_004628.5(XPC):c.2421-11T>C rs3731167 0.00005
NM_004628.5(XPC):c.877C>T (p.Arg293Ter) rs373519125 0.00005
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met) rs373906926 0.00005
NM_000107.3(DDB2):c.1126G>A (p.Asp376Asn) rs375649516 0.00004
NM_000107.3(DDB2):c.264+8A>G rs374094218 0.00004
NM_000122.2(ERCC3):c.143A>G (p.Glu48Gly) rs769971648 0.00004
NM_000122.2(ERCC3):c.1854G>A (p.Pro618=) rs765724086 0.00004
NM_000122.2(ERCC3):c.279C>T (p.Tyr93=) rs146938627 0.00004
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val) rs774078839 0.00004
NM_000380.4(XPA):c.390-13A>C rs373762653 0.00004
NM_000380.4(XPA):c.555+8A>G rs756967163 0.00004
NM_000380.4(XPA):c.739G>A (p.Gly247Arg) rs963248210 0.00004
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) rs531021258 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp) rs139884931 0.00004
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr) rs370454709 0.00004
NM_004628.5(XPC):c.*133G>A rs377250919 0.00004
NM_004628.5(XPC):c.*411dup rs886058047 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.2153G>A (p.Arg718Gln) rs373308689 0.00004
NM_005236.3(ERCC4):c.2392C>G (p.Leu798Val) rs369736388 0.00004
NM_005236.3(ERCC4):c.906T>C (p.Asp302=) rs148003381 0.00004
NM_006502.3(POLH):c.1491G>A (p.Ser497=) rs145050695 0.00004
NM_006502.3(POLH):c.210G>T (p.Lys70Asn) rs149295738 0.00004
NM_000107.3(DDB2):c.619C>T (p.Leu207=) rs753070223 0.00003
NM_000107.3(DDB2):c.930C>T (p.Ser310=) rs549041558 0.00003
NM_000122.2(ERCC3):c.1026C>T (p.Cys342=) rs752026166 0.00003
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_000122.2(ERCC3):c.2105C>T (p.Ala702Val) rs563550613 0.00003
NM_000122.2(ERCC3):c.2218-6C>T rs200733704 0.00003
NM_000122.2(ERCC3):c.658-7C>G rs200361738 0.00003
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570 0.00003
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 0.00003
NM_000380.4(XPA):c.605A>C (p.Glu202Ala) rs200956475 0.00003
NM_000380.4(XPA):c.76G>C (p.Ala26Pro) rs766444854 0.00003
NM_000380.4(XPA):c.89G>A (p.Arg30Gln) rs760613920 0.00003
NM_000400.4(ERCC2):c.1146G>C (p.Leu382=) rs372468267 0.00003
NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile) rs372960848 0.00003
NM_004628.5(XPC):c.*428G>A rs886058046 0.00003
NM_004628.5(XPC):c.352A>G (p.Met118Val) rs967577305 0.00003
NM_004628.5(XPC):c.622-2A>C rs201940931 0.00003
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=) rs565249189 0.00003
NM_005236.3(ERCC4):c.346G>A (p.Val116Ile) rs763811136 0.00003
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe) rs587778282 0.00003
NM_006502.3(POLH):c.1078dup (p.Asp360fs) rs1277794845 0.00003
NM_000122.2(ERCC3):c.1549G>A (p.Glu517Lys) rs781202683 0.00002
NM_000380.4(XPA):c.555G>C (p.Gln185His) rs746617574 0.00002
NM_000380.4(XPA):c.568T>G (p.Ser190Ala) rs555812588 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_000400.4(ERCC2):c.1479+3G>A rs929447513 0.00002
NM_000400.4(ERCC2):c.2005del (p.Arg669fs) rs1233791234 0.00002
NM_000400.4(ERCC2):c.2084G>A (p.Arg695His) rs746618110 0.00002
NM_000400.4(ERCC2):c.294G>C (p.Glu98Asp) rs145947678 0.00002
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_004628.5(XPC):c.2033+1G>A rs764480429 0.00002
NM_004628.5(XPC):c.465A>G (p.Arg155=) rs370322435 0.00002
NM_004628.5(XPC):c.91G>A (p.Glu31Lys) rs368820141 0.00002
NM_006502.3(POLH):c.1406C>T (p.Ala469Val) rs200438344 0.00002
NM_006502.3(POLH):c.1833A>G (p.Lys611=) rs748367351 0.00002
NM_006502.3(POLH):c.1959T>C (p.Tyr653=) rs201357691 0.00002
NM_006502.3(POLH):c.467C>T (p.Thr156Met) rs139742736 0.00002
NM_006502.3(POLH):c.490G>T (p.Glu164Ter) rs767433001 0.00002
NM_000107.3(DDB2):c.1234+9G>A rs756484790 0.00001
NM_000107.3(DDB2):c.702+5G>A rs764606058 0.00001
NM_000107.3(DDB2):c.915C>G (p.Thr305=) rs758199547 0.00001
NM_000122.2(ERCC3):c.122C>T (p.Ala41Val) rs1239018301 0.00001
NM_000122.2(ERCC3):c.1371C>T (p.Ile457=) rs769083884 0.00001
NM_000122.2(ERCC3):c.1497T>C (p.Asn499=) rs1479882729 0.00001
NM_000122.2(ERCC3):c.1635G>A (p.Gln545=) rs760111061 0.00001
NM_000122.2(ERCC3):c.1911C>G (p.Ala637=) rs1258857605 0.00001
NM_000122.2(ERCC3):c.472-10G>A rs369227601 0.00001
NM_000122.2(ERCC3):c.637A>G (p.Thr213Ala) rs760681360 0.00001
NM_000122.2(ERCC3):c.657+1G>A rs56116802 0.00001
NM_000122.2(ERCC3):c.662C>T (p.Ser221Phe) rs1167535533 0.00001
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg) rs899478069 0.00001
NM_000380.4(XPA):c.390-1G>C rs750218942 0.00001
NM_000380.4(XPA):c.429G>A (p.Glu143=) rs753411843 0.00001
NM_000400.4(ERCC2):c.1105C>T (p.Arg369Cys) rs974354644 0.00001
NM_000400.4(ERCC2):c.1343T>C (p.Phe448Ser) rs41559922 0.00001
NM_000400.4(ERCC2):c.1419C>A (p.Phe473Leu) rs1359215642 0.00001
NM_000400.4(ERCC2):c.1666-4C>T rs761821592 0.00001
NM_000400.4(ERCC2):c.1832-7C>T rs1410724947 0.00001
NM_000400.4(ERCC2):c.184-6C>T rs763639137 0.00001
NM_000400.4(ERCC2):c.1894A>C (p.Ile632Leu) rs1027684347 0.00001
NM_000400.4(ERCC2):c.2241G>C (p.Glu747Asp) rs774480587 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_000400.4(ERCC2):c.595-10G>A rs761737358 0.00001
NM_000400.4(ERCC2):c.978C>T (p.Ala326=) rs746258199 0.00001
NM_004628.5(XPC):c.1015T>C (p.Leu339=) rs1479935789 0.00001
NM_004628.5(XPC):c.1149G>A (p.Gly383=) rs761062571 0.00001
NM_004628.5(XPC):c.15C>T (p.Arg5=) rs773629528 0.00001
NM_004628.5(XPC):c.1647C>T (p.His549=) rs190103795 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.1A>G (p.Met1Val) rs763678756 0.00001
NM_004628.5(XPC):c.2011C>T (p.Arg671Cys) rs771891932 0.00001
NM_004628.5(XPC):c.205G>C (p.Gly69Arg) rs533660155 0.00001
NM_004628.5(XPC):c.2655T>A (p.Asp885Glu) rs776266193 0.00001
NM_004628.5(XPC):c.338A>G (p.Lys113Arg) rs560354293 0.00001
NM_004628.5(XPC):c.507G>T (p.Thr169=) rs1286285107 0.00001
NM_004628.5(XPC):c.658C>T (p.Arg220Ter) rs745679643 0.00001
NM_005236.3(ERCC4):c.1102+1G>T rs1314323456 0.00001
NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg) rs751348446 0.00001
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg) rs762147159 0.00001
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg) rs749814308 0.00001
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile) rs779366136 0.00001
NM_005236.3(ERCC4):c.2078G>T (p.Ser693Ile) rs746784825 0.00001
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser) rs753924297 0.00001
NM_005236.3(ERCC4):c.228G>A (p.Leu76=) rs61760162 0.00001
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met) rs1340754747 0.00001
NM_005236.3(ERCC4):c.98T>C (p.Val33Ala) rs1287910269 0.00001
NM_006502.3(POLH):c.*1219A>T rs886061447 0.00001
NM_006502.3(POLH):c.1266T>C (p.Leu422=) rs758340317 0.00001
NM_006502.3(POLH):c.764+2dup rs1400692798 0.00001
NC_000003.11:g.14187530_(14190449_14193834)del
NC_000006.11:g.(43550879_43555008)_(43565603_43568724)del
NC_000016.9:g.(14031716_14038579)_(14038693_14041470)del
NC_000019.9:g.(45858987_45860527)_(45868417_45871887)del
NM_000107.3(DDB2):c.*334_*335del rs4647761
NM_000107.3(DDB2):c.196T>G (p.Cys66Gly) rs1275847261
NM_000107.3(DDB2):c.540A>G (p.Thr180=) rs1440844986
NM_000107.3(DDB2):c.603-4C>G rs2135511675
NM_000107.3(DDB2):c.869C>T (p.Pro290Leu) rs2135512289
NM_000122.2(ERCC3):c.*242dup rs576058879
NM_000122.2(ERCC3):c.1011C>A (p.Val337=) rs961366896
NM_000122.2(ERCC3):c.111G>T (p.Ala37=) rs749971925
NM_000122.2(ERCC3):c.1297C>G (p.Gln433Glu) rs766583866
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000122.2(ERCC3):c.1343-10G>C rs576879627
NM_000122.2(ERCC3):c.1449G>T (p.Leu483=) rs1684874632
NM_000122.2(ERCC3):c.1510A>C (p.Lys504Gln) rs2104761804
NM_000122.2(ERCC3):c.1904A>G (p.Gln635Arg) rs1460478816
NM_000122.2(ERCC3):c.1947G>A (p.Gly649=) rs1218748702
NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys) rs568193912
NM_000122.2(ERCC3):c.2112G>A (p.Ser704=) rs114710997
NM_000122.2(ERCC3):c.2112G>T (p.Ser704=) rs114710997
NM_000122.2(ERCC3):c.2248A>G (p.Met750Val) rs369468852
NM_000122.2(ERCC3):c.235-1G>A rs1420747225
NM_000122.2(ERCC3):c.386T>C (p.Val129Ala) rs1315300796
NM_000122.2(ERCC3):c.411C>G (p.Thr137=) rs774188273
NM_000122.2(ERCC3):c.471+1G>A rs1558964705
NM_000122.2(ERCC3):c.882A>G (p.Glu294=) rs1486201257
NM_000123.4(ERCC5):c.1173dup (p.Lys392Ter) rs1283214655
NM_000123.4(ERCC5):c.1975del (p.Ser659fs) rs1882806435
NM_000123.4(ERCC5):c.2427del (p.Asp809fs) rs777455688
NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs) rs779078202
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.4(ERCC5):c.2890del (p.Arg964fs)
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000123.4(ERCC5):c.922_923del (p.Leu308fs) rs1882641004
NM_000380.4(XPA):c.*234_*235del rs568435573
NM_000380.4(XPA):c.15C>T (p.Asp5=) rs553043532
NM_000380.4(XPA):c.174C>A (p.Gly58=) rs748832661
NM_000380.4(XPA):c.20C>T (p.Ala7Val) rs1228453951
NM_000380.4(XPA):c.219A>C (p.Gly73=) rs927707804
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000380.4(XPA):c.33G>T (p.Ala11=) rs778465643
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_000380.4(XPA):c.378T>G (p.Cys126Trp) rs1451780491
NM_000380.4(XPA):c.389G>A (p.Arg130Lys) rs1324310300
NM_000380.4(XPA):c.428_429del (p.Glu143fs) rs1554701540
NM_000380.4(XPA):c.472A>C (p.Arg158=) rs2131396614
NM_000380.4(XPA):c.482C>T (p.Pro161Leu) rs1828744402
NM_000380.4(XPA):c.631C>T (p.Arg211Ter) rs149226993
NM_000380.4(XPA):c.648_649del (p.Lys217fs) rs1057519018
NM_000380.4(XPA):c.666dup (p.Val223fs) rs1554701103
NM_000380.4(XPA):c.673+1G>A rs2131393093
NM_000380.4(XPA):c.674-12dup rs770101529
NM_000380.4(XPA):c.689dup (p.Arg231fs) rs2131379218
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer)
NM_000400.4(ERCC2):c.1237+5G>C rs761017664
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)
NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln) rs140522180
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.183+4A>G rs1972522411
NM_000400.4(ERCC2):c.1832-3C>G rs1971859134
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.2017G>A (p.Asp673Asn) rs2123223978
NM_000400.4(ERCC2):c.2064C>G (p.Asp688Glu) rs1260724831
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln) rs759412116
NM_000400.4(ERCC2):c.2190+1del rs1476160722
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.895C>T (p.Arg299Trp) rs760337216
NM_000400.4(ERCC2):c.[1381C>G;2150C>G]
NM_004628.5(XPC):c.*611T>A rs2470352
NM_004628.5(XPC):c.*684G>C rs1126547
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_004628.5(XPC):c.10A>G (p.Lys4Glu) rs2125053616
NM_004628.5(XPC):c.160G>C (p.Gly54Arg) rs1696674854
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.1660C>T (p.Gln554Ter) rs1696002966
NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter) rs1695999145
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
NM_004628.5(XPC):c.1803G>A (p.Glu601=) rs1161680970
NM_004628.5(XPC):c.2116-10T>C rs1695570524
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.2161G>A (p.Glu721Lys) rs886058048
NM_004628.5(XPC):c.2514+9A>G rs756795578
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter) rs370126012
NM_004628.5(XPC):c.2605A>G (p.Ser869Gly) rs1574946666
NM_004628.5(XPC):c.2633C>T (p.Ala878Val) rs183167499
NM_004628.5(XPC):c.420_423del (p.Glu141fs) rs1330667099
NM_004628.5(XPC):c.463C>T (p.Arg155Ter) rs755825264
NM_004628.5(XPC):c.537-16dup rs755812525
NM_004628.5(XPC):c.537-8_537-5del rs1210551886
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_004628.5(XPC):c.90GGA[4] (p.Glu34del) rs750450365
NM_005236.3(ERCC4):c.*2577del rs61422086
NM_005236.3(ERCC4):c.*3953del rs397778750
NM_005236.3(ERCC4):c.1214-1G>A
NM_005236.3(ERCC4):c.1285G>A (p.Glu429Lys) rs2032259728
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro) rs2032274770
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.1788G>T (p.Ala596=) rs374303503
NM_005236.3(ERCC4):c.1905-6C>G rs2141616963
NM_005236.3(ERCC4):c.2017+1G>C rs587777943
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)
NM_005236.3(ERCC4):c.307C>T (p.Gln103Ter)
NM_005236.3(ERCC4):c.975T>G (p.Gly325=) rs1192175161
NM_005236.3(ERCC4):c.979C>T (p.Leu327=) rs2141949782
NM_006502.3(POLH):c.*2042_*2043dup rs368089629
NM_006502.3(POLH):c.*2043dup rs368089629
NM_006502.3(POLH):c.*2812_*2820delinsCC rs886061460
NM_006502.3(POLH):c.*3051_*3052del rs568828810
NM_006502.3(POLH):c.*4388TATTT[1] rs565512423
NM_006502.3(POLH):c.*4413_*4414dup rs55760315
NM_006502.3(POLH):c.*4414del rs55760315
NM_006502.3(POLH):c.*4414dup rs55760315
NM_006502.3(POLH):c.*4806del rs886061469
NM_006502.3(POLH):c.*4807del rs886061470
NM_006502.3(POLH):c.*4837dup rs60046548
NM_006502.3(POLH):c.*5071AG[2] rs886061473
NM_006502.3(POLH):c.*5142_*5146del rs886061474
NM_006502.3(POLH):c.*5936del rs200163087
NM_006502.3(POLH):c.-87del rs886061432
NM_006502.3(POLH):c.1000C>G (p.Arg334Gly) rs9333548
NM_006502.3(POLH):c.112C>G (p.Gln38Glu) rs2127773194
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del) rs747834463
NM_006502.3(POLH):c.134G>A (p.Gly45Asp) rs2127773221
NM_006502.3(POLH):c.1418_1423del (p.Thr473_Lys474del) rs1276240965
NM_006502.3(POLH):c.1635T>G (p.Asn545Lys) rs2127822032
NM_006502.3(POLH):c.1656C>G (p.Pro552=) rs148589983
NM_006502.3(POLH):c.1870C>G (p.Pro624Ala) rs886061437
NM_006502.3(POLH):c.1896A>G (p.Gln632=) rs139476900
NM_006502.3(POLH):c.1977G>A (p.Leu659=) rs1768186117
NM_006502.3(POLH):c.2119T>G (p.Phe707Val) rs2127822760
NM_006502.3(POLH):c.424T>C (p.Leu142=) rs997248275
NM_006502.3(POLH):c.723G>A (p.Gly241=) rs781009488
NM_006502.3(POLH):c.884+20dup rs199876593
NM_024334.3(TMEM43):c.*766CAAAA[1] rs141474582
NM_177417.3(KLC3):c.*66_*67insT rs886054493

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