ClinVar Miner

List of variants studied for DNA repair disease by OMIM

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 303
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) rs121434326 0.00006
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576 0.00004
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val) rs121434571 0.00003
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628 0.00003
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379 0.00003
NM_000107.3(DDB2):c.818G>A (p.Arg273His) rs121434640 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_018319.4(TDP1):c.1478A>G (p.His493Arg) rs119467003 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter) rs121434364 0.00002
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) rs121434325 0.00001
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048 0.00001
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter) rs121434573 0.00001
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter) rs121434572 0.00001
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000380.4(XPA):c.390-1G>C rs750218942 0.00001
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023 0.00001
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg) rs121913022 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly) rs764507146 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001195248.2(APTX):c.617C>T (p.Pro206Leu) rs121908131 0.00001
NM_001195248.2(APTX):c.689dup (p.Glu232fs) rs587776593 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404 0.00001
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg) rs397509403 0.00001
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr) rs121912629 0.00001
NM_006502.3(POLH):c.1766A>C (p.Lys589Thr) rs121908565 0.00001
NM_006502.3(POLH):c.207del (p.Lys70fs) rs1176350430 0.00001
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838 0.00001
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_020894.4(UVSSA):c.367A>T (p.Lys123Ter) rs387907163 0.00001
NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg) rs387907164 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_023077.3(COA7):c.410A>G (p.Tyr137Cys) rs961876891 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_032444.4(SLX4):c.1163+2T>A rs773642409 0.00001
NM_182649.2(PCNA):c.683G>T (p.Ser228Ile) rs369958038 0.00001
FANCB, 3314-BP DEL
FANCC, 250-BP DEL
MLH1, EX16DEL
MSH6, 4-BP DEL, NT3609
Multiple alleles
NC_000009.12:g.(?_32973498)_(33001604_?)del
NC_012920.1:m.8993T>C rs199476133
NG_007276.1:g.(19287_22502)_(23634_24320)del
NG_007276.1:g.(?_5047)_(19287_22502)del
NG_007406.1:g.(5249_8228)_(17155_19960)del
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7464_7465insTA (p.Asp2489Ter) rs886038169
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter) rs80359070
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8732C>A (p.Ala2911Glu) rs80359130
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000082.3:c.844_1122del
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys) rs281875221
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323
NM_000107.3(DDB2):c.730A>G (p.Lys244Glu) rs121434639
NM_000107.3(DDB2):c.919G>T (p.Asp307Tyr) rs121434642
NM_000107.3(DDB2):c.937C>T (p.Arg313Ter) rs121434641
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.2(ERCC3):c.2218-6C>A rs200733704
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000122.2(ERCC3):c.471+1G>A rs1558964705
NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer) rs866379139
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.4(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.4(ERCC5):c.1975del (p.Ser659fs) rs1882806435
NM_000123.4(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs) rs760232640
NM_000123.4(ERCC5):c.2775del (p.Gly926fs) rs2140538834
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp) rs267607281
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs) rs1590474873
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.1971_1974dup (p.Thr659fs) rs2132552521
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val) rs1590413260
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro) rs121917905
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs) rs758341467
NM_000124.4(ERCC6):c.972dup (p.Glu325fs) rs387906262
NM_000135.2(FANCA):c.1007_3066del
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.4(FANCA):c.1115_1118del (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.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) rs121917785
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000179.3(MSH6):c.1596dup (p.Glu533Ter) rs587779217
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter) rs587779252
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3386_3388del (p.Cys1129_Val1130delinsLeu) rs587776705
NM_000179.3(MSH6):c.3633dup (p.Val1212fs) rs587776706
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn) rs121912965
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs) rs63750035
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp) rs63750206
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000251.2(MSH2):c.-125_1076+?del
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.2006-5T>A rs267607990
NM_000251.3(MSH2):c.454del (p.Met152fs) rs63751449
NM_000380.4(XPA):c.172+2T>G rs1587755557
NM_000380.4(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000380.4(XPA):c.348T>A (p.Tyr116Ter) rs104894134
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro) rs121913025
NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg) rs121913019
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1745_1747delinsTTTCGG (p.Glu582_Lys583delinsValSerGlu) rs2123229159
NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter) rs121913017
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer) rs767747355
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
NM_000535.7(PMS2):c.1221del (p.Thr408fs) rs587776715
NM_000535.7(PMS2):c.1306dup (p.Ser436fs) rs63750106
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.182del (p.Tyr61fs) rs63750793
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.219T>A (p.Cys73Ter) rs121434630
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs) rs1601977844
NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001018113.3(FANCB):c.829dup (p.Cys277fs) rs1602005335
NM_001018115.1:c.1414_1545del
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile) rs886037925
NM_001033855.3(DCLRE1C):c.362+1G>T rs1564446526
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
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_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) rs2052048258
NM_001113378.2(FANCI):c.3350-88A>G rs2054700381
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001195248.2(APTX):c.602A>G (p.His201Arg) rs121908133
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro) rs267606665
NM_001195248.2(APTX):c.788T>G (p.Val263Gly) rs121908132
NM_001195248.2(APTX):c.841del (p.Ser281fs) rs587776594
NM_001195248.2(APTX):c.875-1G>A rs1587330671
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter) rs121913027
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.5(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.5(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002875.5(RAD51):c.391A>C (p.Thr131Pro) rs1895530875
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_004628.4(XPC):c.621_622ins83 (p.?)
NM_004628.5(XPC):c.1292_1293del (p.Lys431fs) rs794729654
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.2033+2T>G rs794729655
NM_004628.5(XPC):c.413-24A>G rs794729657
NM_004628.5(XPC):c.413-9T>A rs794729656
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.1761-1G>C rs1829035889
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.2(FANCG):c.925-2A>G rs397507561
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.2304_2307del (p.Thr770fs) rs869025184
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.3(ERCC4):c.689T>C (p.Leu230Pro) rs397509402
NM_005732.4(RAD50):c.2524G>A (p.Val842Ile) rs2149847342
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu) rs1057517674
NM_006502.3(POLH):c.106_118del (p.Val36fs) rs2127773185
NM_006502.3(POLH):c.1117C>T (p.Gln373Ter) rs121908564
NM_006502.3(POLH):c.222TCT[1] (p.Leu77del) rs1426687865
NM_006502.3(POLH):c.376C>T (p.Gln126Ter) rs121908563
NM_006502.3(POLH):c.54_57del (p.Val19fs) rs2127773120
NM_006502.3(POLH):c.663_764+2del rs2127799895
NM_006502.3(POLH):c.916G>T (p.Glu306Ter) rs121908562
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter) rs80357346
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter) rs1555589094
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_014176.4(UBE2T):c.179+5G>A rs796052212
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu) rs774357609
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.340CTT[1] (p.Leu115del) rs587776537
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_018062.3(FANCL):c.822-15_822-9delins177
NM_018062.4(FANCL):c.268del (p.Leu90fs) rs869320684
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys) rs1555524842
NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs) rs1205970095
NM_020894.4(UVSSA):c.87del (p.Ile31fs) rs778975867
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_022725.4(FANCF):c.16C>T (p.Gln6Ter) rs104894221
NM_022725.4(FANCF):c.219del (p.Arg74fs) rs1858634363
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter) rs104894222
NM_022725.4(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer) rs778546226
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.534del (p.Lys179fs) rs2133797515
NM_023077.3(COA7):c.17A>G (p.Asp6Gly) rs780572767
NM_023077.3(COA7):c.247+1G>T rs1197945739
NM_023077.3(COA7):c.431del (p.Gly144fs) rs1558102464
NM_023077.3(COA7):c.446G>T (p.Ser149Ile) rs1558102448
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_032444.4(SLX4):c.1093del (p.Gln365fs) rs1218169126
NM_032444.4(SLX4):c.1163+2dup rs2040719850
NM_032444.4(SLX4):c.2013+225_3147delinsCC
NM_032444.4(SLX4):c.286del (p.Thr96fs) rs1596534281
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter) rs1777038679
NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys) rs1785841426
NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter) rs1777036380
NM_207118.3(GTF2H5):c.62T>C (p.Leu21Pro) rs121434365
POLH, 2-BP DEL, NT770
POLH, DEL AND TRP297TER

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