ClinVar Miner

List of variants reported as uncertain significance for Xeroderma pigmentosum

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ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) rs145201970 0.00146
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_005236.3(ERCC4):c.325G>A (p.Ala109Thr) rs148791570 0.00107
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 0.00098
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
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_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_006502.3(POLH):c.738C>T (p.Leu246=) rs145530456 0.00049
NM_006502.3(POLH):c.1181A>G (p.Lys394Arg) rs149030396 0.00043
NM_004628.5(XPC):c.749A>G (p.Asp250Gly) rs201247727 0.00040
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_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_006502.3(POLH):c.*4531_*4532del rs767288700 0.00029
NM_000107.3(DDB2):c.1120G>A (p.Val374Met) rs148299549 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_006502.3(POLH):c.-5+3A>G rs9357415 0.00025
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00024
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.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_000400.4(ERCC2):c.1349G>A (p.Arg450His) rs146632315 0.00016
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_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.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg) rs201806429 0.00011
NM_004628.5(XPC):c.1133G>A (p.Arg378Lys) rs533121927 0.00011
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu) rs368830992 0.00009
NM_005236.3(ERCC4):c.537A>G (p.Glu179=) rs373408411 0.00009
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_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_000122.2(ERCC3):c.694A>G (p.Thr232Ala) rs201383161 0.00006
NM_000380.4(XPA):c.773G>A (p.Arg258His) rs763929562 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_005236.3(ERCC4):c.2125G>A (p.Val709Met) rs373906926 0.00005
NM_000107.3(DDB2):c.1126G>A (p.Asp376Asn) rs375649516 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_000380.4(XPA):c.390-13A>C rs373762653 0.00004
NM_000380.4(XPA):c.739G>A (p.Gly247Arg) rs963248210 0.00004
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp) rs139884931 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.1616A>G (p.Glu539Gly) rs563236303 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_006502.3(POLH):c.210G>T (p.Lys70Asn) rs149295738 0.00004
NM_000107.3(DDB2):c.619C>T (p.Leu207=) rs753070223 0.00003
NM_000122.2(ERCC3):c.2105C>T (p.Ala702Val) rs563550613 0.00003
NM_000122.2(ERCC3):c.658-7C>G rs200361738 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.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_005236.3(ERCC4):c.346G>A (p.Val116Ile) rs763811136 0.00003
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe) rs587778282 0.00003
NM_000122.2(ERCC3):c.1549G>A (p.Glu517Lys) rs781202683 0.00002
NM_000400.4(ERCC2):c.1479+3G>A rs929447513 0.00002
NM_000400.4(ERCC2):c.2084G>A (p.Arg695His) rs746618110 0.00002
NM_004628.5(XPC):c.91G>A (p.Glu31Lys) rs368820141 0.00002
NM_006502.3(POLH):c.467C>T (p.Thr156Met) rs139742736 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_000122.2(ERCC3):c.122C>T (p.Ala41Val) rs1239018301 0.00001
NM_000122.2(ERCC3):c.1635G>A (p.Gln545=) rs760111061 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.662C>T (p.Ser221Phe) rs1167535533 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_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.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_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.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
NM_000107.3(DDB2):c.*334_*335del rs4647761
NM_000107.3(DDB2):c.196T>G (p.Cys66Gly) rs1275847261
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.1297C>G (p.Gln433Glu) rs766583866
NM_000122.2(ERCC3):c.1343-10G>C rs576879627
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.1960G>A (p.Glu654Lys) rs568193912
NM_000122.2(ERCC3):c.2248A>G (p.Met750Val) rs369468852
NM_000122.2(ERCC3):c.386T>C (p.Val129Ala) rs1315300796
NM_000380.4(XPA):c.*234_*235del rs568435573
NM_000380.4(XPA):c.20C>T (p.Ala7Val) rs1228453951
NM_000380.4(XPA):c.472A>C (p.Arg158=) rs2131396614
NM_000380.4(XPA):c.482C>T (p.Pro161Leu) rs1828744402
NM_000400.4(ERCC2):c.1237+5G>C rs761017664
NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln) rs140522180
NM_000400.4(ERCC2):c.183+4A>G rs1972522411
NM_000400.4(ERCC2):c.1832-3C>G rs1971859134
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
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.2189G>A (p.Arg730Gln) rs759412116
NM_000400.4(ERCC2):c.895C>T (p.Arg299Trp) rs760337216
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.1803G>A (p.Glu601=) rs1161680970
NM_004628.5(XPC):c.2116-10T>C rs1695570524
NM_004628.5(XPC):c.2161G>A (p.Glu721Lys) rs886058048
NM_004628.5(XPC):c.2514+9A>G rs756795578
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.537-16dup rs755812525
NM_004628.5(XPC):c.537-8_537-5del rs1210551886
NM_004628.5(XPC):c.90GGA[4] (p.Glu34del) rs750450365
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.1905-6C>G rs2141616963
NM_005236.3(ERCC4):c.979C>T (p.Leu327=) rs2141949782
NM_006502.3(POLH):c.*2042_*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.*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.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.1870C>G (p.Pro624Ala) rs886061437
NM_006502.3(POLH):c.2119T>G (p.Phe707Val) rs2127822760
NM_177417.3(KLC3):c.*66_*67insT rs886054493

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