ClinVar Miner

List of variants reported as pathogenic for DNA repair disease by OMIM

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 316
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HGVS dbSNP
DCLRE1C, EX1-4DEL
DCLRE1C, EX5-6DEL
DCLRE1C, EX5-8DEL
DNMT3B, 1-BP INS, CODON 53
DNMT3B, EX21-22DEL
DNMT3B, LEU656THR
ERCC2, 2-BP DEL, 1781TT
ERCC2, 3-BP DEL/6-BP INS, NT1823
ERCC2, 4-BP DEL, NT668
ERCC3, IVS14AS, C-A, -6
ERCC5, 1-BP DEL, 2170A
ERCC5, 1-BP DEL, 2972T
ERCC6, 2-BP DEL, 3794AA
ERCC6, 4-BP INS, 1053TGTC
ERCC8, 279-BP DEL, 81-BP DEL
FANCA, IVS7DS, G-A, +5
FANCB, 1-BP DEL, 1650T
FANCB, 1-BP INS, 1838T
FANCB, 1-BP INS, 811T
FANCB, 3314-BP DEL
FANCC, 250-BP DEL
FANCD2, 376A-G
FANCD2, EX17 DEL
FANCG, IVS13, G-C, -1
FANCI, 2T-C
FANCI, IVS31AS, A-G, -88
FANCL, 3-BP DEL, 1007TAT
FANCL, 4-BP DUP, 1095AATT
GINS1, -60A-G
NC_000009.12:g.(?_32973498)_(33001604_?)del
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.3(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.3(ATM):c.4776+2T>C rs587781927
NM_000051.3(ATM):c.7279_7284del (p.Leu2427_Arg2428del) rs796051856
NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.3(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7881_7885TATTA[1] (p.Ile2629fs) rs1450394308
NM_000051.3(ATM):c.7988_7991del (p.Val2663fs) rs587776550
NM_000051.3(ATM):c.8578_8580delTCT (p.SER1512DEL) rs786203976
NM_000057.2(BLM):c.2308-953_2555+4719del
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) rs137853153
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000059.3(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695
NM_000059.3(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.631+1G>A rs81002897
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7464_7465insTA (p.Asp2489Ter) rs886038169
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8219T>A (p.Leu2740Ter) rs80359070
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8732C>A (p.Ala2911Glu) rs80359130
NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.3(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773
NM_000082.3(ERCC8):c.1083G>T (p.Trp361Cys) rs281875221
NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) rs121434324
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323
NM_000107.2(DDB2):c.730A>G (p.Lys244Glu) rs121434639
NM_000107.2(DDB2):c.818G>A (p.Arg273His) rs121434640
NM_000107.2(DDB2):c.919G>T (p.Asp307Tyr) rs121434642
NM_000107.2(DDB2):c.937C>T (p.Arg313Ter) rs121434641
NM_000122.1(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.1(ERCC3):c.1421dup (p.Asp474fs) rs587778281
NM_000122.1(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048
NM_000122.1(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000122.1(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000122.1(ERCC3):c.471+1G>A rs1558964705
NM_000123.3(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.3(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.3(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000123.3(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.3(ERCC5):c.2766dup (p.Leu923fs) rs760232640
NM_000123.3(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570
NM_000123.3(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.3(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.3(ERCC5):c.526C>T (p.Gln176Ter) rs121434573
NM_000123.3(ERCC5):c.787C>T (p.Arg263Ter) rs121434572
NM_000123.3(ERCC5):c.83C>A (p.Ala28Asp) rs267607281
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs)
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter) rs121917900
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val)
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro) rs121917905
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_000124.4(ERCC6):c.972dup (p.Glu325fs) rs387906262
NM_000135.2(FANCA):c.1007_3066del
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.2(FANCA):c.894_1006del113 (p.Trp298Cysfs)
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1606del (p.Ser536fs) rs587776570
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) rs121917785
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000380.3(XPA):c.172+2T>G
NM_000380.3(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000380.3(XPA):c.344_348CTTAT[1] (p.Leu117fs) rs1200172747
NM_000380.3(XPA):c.348T>A (p.Tyr116Ter) rs104894134
NM_000380.3(XPA):c.619C>T (p.Arg207Ter) rs104894133
NM_000380.3(XPA):c.682C>T (p.Arg228Ter) rs104894132
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1454T>C (p.Leu485Pro) rs121913025
NM_000400.3(ERCC2):c.1621A>C (p.Ser541Arg) rs121913019
NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024
NM_000400.3(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021
NM_000400.3(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2137G>C (p.Gly713Arg) rs121913022
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_000400.3(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018
NM_000400.3(ERCC2):c.2176C>T (p.Gln726Ter) rs121913017
NM_000400.3(ERCC2):c.335G>A (p.Arg112His) rs121913020
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1855_1856AG[1] (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile) rs886037925
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156
NM_001033855.3(DCLRE1C):c.362+1G>T rs1564446526
NM_001033855.3(DCLRE1C):c.780+1del rs786205074
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001033855.3(DCLRE1C):c.972+1G>C rs1564414523
NM_001113378.1(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164
NM_001113378.1(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001142633.2(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068
NM_001195248.2(APTX):c.602A>G (p.His201Arg) rs121908133
NM_001195248.2(APTX):c.617C>T (p.Pro206Leu) rs121908131
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro) rs267606665
NM_001195248.2(APTX):c.689dup (p.Glu232fs) rs587776593
NM_001195248.2(APTX):c.788T>G (p.Val263Gly) rs121908132
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103
NM_001195248.2(APTX):c.841del (p.Ser281fs) rs587776594
NM_001195248.2(APTX):c.875-1G>A
NM_001291969.2(POLH):c.118+4234C>T rs121908563
NM_001291970.2(POLH):c.*450A>C rs121908565
NM_001303416.2(ERCC3):c.617_618del (p.Ser205_Phe206insTer) rs866379139
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter) rs121913027
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_002485.4(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.4(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.4(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.4(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.4(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.4(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002592.2(PCNA):c.683G>T (p.Ser228Ile) rs369958038
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_004618.5(TOP3A):c.2271dup (p.Arg758fs) rs752838075
NM_004618.5(TOP3A):c.2428del (p.Ser810fs) rs1555568139
NM_004618.5(TOP3A):c.2718del (p.Thr907fs) rs1288928564
NM_004628.4(XPC):c.1001C>A (p.Pro334His) rs74737358
NM_004628.4(XPC):c.1292_1293del (p.Lys431fs) rs794729654
NM_004628.4(XPC):c.1639_1640TG[2] (p.Val548fs) rs754532049
NM_004628.4(XPC):c.1735C>T (p.Arg579Ter) rs121965088
NM_004628.4(XPC):c.2033+2T>G rs794729655
NM_004628.4(XPC):c.413-24A>G rs794729657
NM_004628.4(XPC):c.413-9T>A rs794729656
NM_004628.4(XPC):c.564_565AT[1] (p.Tyr189fs) rs752088918
NM_004628.4(XPC):c.621_622ins83 (p.?)
NM_004629.1(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.307+1G>C rs200479612
NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) rs121434425
NM_004629.1(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.1(FANCG):c.925-2A>G rs397507561
NM_005236.2(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.2(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.2(ERCC4):c.2300_2301TC[2] (p.Thr770fs) rs869025184
NM_005236.2(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005236.2(ERCC4):c.689T>C (p.Leu230Pro) rs397509402
NM_005236.2(ERCC4):c.706T>C (p.Cys236Arg) rs397509403
NM_005591.3(MRE11):c.140C>T (p.Ala47Val) rs730880378
NM_005591.3(MRE11):c.1442C>A (p.Thr481Lys) rs137852762
NM_005591.3(MRE11):c.1714C>T (p.Arg572Ter) rs137852761
NM_005591.3(MRE11):c.1897C>T (p.Arg633Ter) rs137852759
NM_005591.3(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005591.3(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr) rs121912629
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu) rs1057517674
NM_006502.2(POLH):c.1117C>T (p.Gln373Ter) rs121908564
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_006502.2(POLH):c.207del (p.Lys70fs) rs1176350430
NM_006502.2(POLH):c.222_224TCT[1] (p.Leu77del) rs1426687865
NM_006502.2(POLH):c.916G>T (p.Glu306Ter) rs121908562
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) rs121908943
NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser) rs121908942
NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly) rs121908944
NM_006892.4(DNMT3B):c.2421-11G>A rs547940069
NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly) rs121908939
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met) rs121908940
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) rs121908946
NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro) rs121908947
NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter) rs121908945
NM_007294.3(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838
NM_007294.3(BRCA1):c.1292T>G (p.Leu431Ter) rs80357346
NM_007294.3(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.3(BRCA1):c.594_597delTGTG rs797045175
NM_007298.3(BRCA1):c.788-1790T>A rs1555589094
NM_007299.4(BRCA1):c.1895T>C (p.Val632Ala) rs45553935
NM_014176.4(UBE2T):c.179+5G>A rs796052212
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu) rs774357609
NM_014797.2(ZBTB24):c.1222T>G (p.Cys408Gly) rs387907105
NM_014797.2(ZBTB24):c.1369C>T (p.Arg457Ter) rs387907106
NM_014797.2(ZBTB24):c.396_397del (p.His132fs)
NM_014797.2(ZBTB24):c.47C>G (p.Ser16Ter)
NM_014797.2(ZBTB24):c.833C>G (p.Ser278Ter)
NM_014797.2(ZBTB24):c.958C>T (p.Arg320Ter) rs387907104
NM_015046.5(SETX):c.[1807A>G;1957C>A]
NM_015046.5(SETX):c.[3880C>T;822G>H]
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) rs121434381
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) rs121434377
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) rs587776536
NM_015046.7(SETX):c.340_342CTT[1] (p.Leu115del) rs587776537
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665
NM_018062.3(FANCL):c.268del (p.Leu90fs) rs869320684
NM_018062.3(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.3(FANCL):c.822-15_822-9delins177
NM_018063.5(HELLS):c.2096A>G (p.Gln699Arg) rs879253733
NM_018063.5(HELLS):c.2283_2286del (p.Ser762fs) rs879253734
NM_018063.5(HELLS):c.2394_2396GTT[2] (p.Leu801del) rs879253737
NM_018063.5(HELLS):c.370+2T>A rs140316223
NM_018063.5(HELLS):c.374_381dup (p.Lys128Ter) rs879253736
NM_018063.5(HELLS):c.610A>T (p.Lys204Ter) rs879253735
NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys) rs1555524842
NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs) rs1205970095
NM_018319.4(TDP1):c.1478A>G (p.His493Arg) rs119467003
NM_020894.4(UVSSA):c.367A>T (p.Lys123Ter) rs387907163
NM_020894.4(UVSSA):c.87del (p.Ile31fs)
NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg) rs387907164
NM_021067.5(GINS1):c.-48C>G rs974304393
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) rs376610445
NM_021922.2(FANCE):c.1114-8G>A rs878854342
NM_021922.2(FANCE):c.355C>T (p.Gln119Ter) rs121434505
NM_021922.2(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_022725.3(FANCF):c.16C>T (p.Gln6Ter) rs104894221
NM_022725.3(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.3(FANCF):c.327C>G (p.Tyr109Ter) rs104894222
NM_022725.3(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.3(FANCF):c.480_481CT[2] (p.Leu162fs) rs587778340
NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_031942.5(CDCA7):c.1057C>T (p.Arg353Cys) rs879253738
NM_031942.5(CDCA7):c.1058G>A (p.Arg353His) rs370384522
NM_031942.5(CDCA7):c.1118del (p.Gly373fs) rs876657409
NM_031942.5(CDCA7):c.1148G>A (p.Arg383His) rs772929976
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032444.4(SLX4):c.1093del (p.Gln365fs)
NM_032444.4(SLX4):c.1163+2T>A rs773642409
NM_032444.4(SLX4):c.286del (p.Thr96fs)
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_033084.5(FANCD2):c.3707G>A (p.Arg1236His) rs121917786
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_033084.5(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_152617.4(RNF168):c.1323_1326del (p.Gln442fs)
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter) rs201915239
NM_152617.4(RNF168):c.397dup (p.Ala133fs)
NM_207118.2(GTF2H5):c.166C>T (p.Arg56Ter) rs121434364
NM_207118.2(GTF2H5):c.62T>C (p.Leu21Pro) rs121434365
PALB2:c.49-?_2586+?del
POLH, 104-BP DEL, NT661
POLH, 13-BP DEL, NT343
POLH, 2-BP DEL, NT770
POLH, 4-BP DEL, NT289
POLH, DEL AND TRP297TER
SLX4, 4,890-BP DEL/2-BP INS
SLX4, IVS5DS, 1-BP DUP, T, +3
XPA, IVS3AS, G-C
XPC, 3-BP INS, GGT, CODON 580 AND LYS822GLN

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