ClinVar Miner

List of variants reported as pathogenic for Fanconi anemia complementation group A by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 341
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.(?_58159755)_(58241323_?)del
NC_000003.12:g.(?_10028648)_(10043874_?)del
NC_000003.12:g.(?_10028648)_(10046733_?)del
NC_000003.12:g.(?_10064723)_(10146642_?)del
NC_000009.12:g.(?_35076714)_(35077111_?)del
NC_000009.12:g.(?_95101700)_(95508367_?)del
NC_000009.12:g.(?_95101707)_(95317709_?)del
NC_000009.12:g.(?_95114619)_(95114720_?)del
NC_000009.12:g.(?_95135336)_(95135512_?)del
NC_000009.12:g.(?_95135336)_(95249379_?)del
NC_000009.12:g.(?_95149913)_(95172157_?)del
NC_000009.12:g.(?_95240639)_(95240753_?)del
NC_000014.9:g.(?_45136032)_(45200008_?)del
NC_000014.9:g.(?_45166940)_(45167173_?)del
NC_000015.10:g.(?_89247629)_(89317131_?)del
NC_000016.10:g.(?_3606464)_(3608974_?)del
NC_000016.10:g.(?_3608430)_(3609566_?)del
NC_000016.10:g.(?_89738591)_(89742948_?)del
NC_000016.10:g.(?_89738591)_(89762032_?)del
NC_000016.10:g.(?_89738591)_(89811081_?)del
NC_000016.10:g.(?_89738591)_(89816625_?)del
NC_000016.10:g.(?_89738591)_(89920222_?)del
NC_000016.10:g.(?_89744949)_(89767247_?)del
NC_000016.10:g.(?_89748641)_(89758720_?)del
NC_000016.10:g.(?_89748641)_(89765076_?)del
NC_000016.10:g.(?_89748649)_(89758715_?)del
NC_000016.10:g.(?_89748649)_(89765076_?)del
NC_000016.10:g.(?_89752128)_(89792557_?)del
NC_000016.10:g.(?_89752128)_(89808377_?)del
NC_000016.10:g.(?_89752128)_(89816625_?)del
NC_000016.10:g.(?_89752138)_(89792547_?)del
NC_000016.10:g.(?_89758567)_(89784974_?)del
NC_000016.10:g.(?_89758567)_(89808377_?)del
NC_000016.10:g.(?_89758571)_(89784970_?)del
NC_000016.10:g.(?_89761939)_(89762032_?)del
NC_000016.10:g.(?_89761939)_(89765076_?)del
NC_000016.10:g.(?_89761939)_(89816616_?)del
NC_000016.10:g.(?_89761943)_(89920218_?)del
NC_000016.10:g.(?_89764807)_(89773394_?)del
NC_000016.10:g.(?_89764807)_(89775825_?)del
NC_000016.10:g.(?_89764807)_(89805402_?)del
NC_000016.10:g.(?_89764880)_(89773394_?)del
NC_000016.10:g.(?_89767131)_(89784974_?)del
NC_000016.10:g.(?_89767131)_(89799648_?)del
NC_000016.10:g.(?_89767135)_(89816621_?)del
NC_000016.10:g.(?_89775732)_(89808377_?)del
NC_000016.10:g.(?_89775736)_(89775821_?)del
NC_000016.10:g.(?_89778791)_(89779967_?)del
NC_000016.10:g.(?_89778791)_(89816625_?)del
NC_000016.10:g.(?_89782849)_(89784974_?)del
NC_000016.10:g.(?_89782849)_(89796028_?)del
NC_000016.10:g.(?_89782853)_(89784970_?)del
NC_000016.10:g.(?_89784844)_(89784974_?)del
NC_000016.10:g.(?_89791393)_(89796028_?)del
NC_000016.10:g.(?_89791393)_(89811081_?)del
NC_000016.10:g.(?_89791393)_(89816625_?)del
NC_000016.10:g.(?_89791397)_(89792553_?)del
NC_000016.10:g.(?_89791402)_(89816615_?)del
NC_000016.10:g.(?_89791403)_(89796018_?)del
NC_000016.10:g.(?_89798246)_(89799648_?)del
NC_000016.10:g.(?_89799156)_(89799648_?)del
NC_000016.10:g.(?_89803249)_(89808377_?)del
NC_000016.10:g.(?_89803249)_(89811081_?)del
NC_000016.10:g.(?_89803249)_(89816625_?)del
NC_000016.10:g.(?_89808284)_(89816616_?)del
NC_000016.10:g.(?_89808284)_(89816625_?)del
NC_000016.10:g.(?_89810697)_(89816616_?)del
NC_000016.10:g.(?_89810697)_(89816625_?)del
NC_000016.10:g.(?_89810701)_(89816621_?)del
NC_000016.10:g.(?_89814510)_(89816625_?)del
NC_000016.10:g.(?_89814514)_(89816621_?)del
NC_000016.10:g.(?_89815867)_(89816625_?)del
NC_000016.10:g.89799166_89799169del
NC_000016.9:g.(?_89831292)_(89833651_?)del
NC_000016.9:g.89871693_89878808del
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.3(FANCA):c.(?_-1)_522+?del
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)
NM_000135.4(FANCA):c.1028_1029AG[3] (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1084-1G>A
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer)
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1194del (p.Cys399fs)
NM_000135.4(FANCA):c.1202del (p.Pro401fs)
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)
NM_000135.4(FANCA):c.1417del (p.Leu473fs)
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1630dup (p.His544fs) rs1598129626
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1812_1813AG[1] (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter)
NM_000135.4(FANCA):c.1824dup (p.Arg609fs) rs1598127082
NM_000135.4(FANCA):c.1827-1G>A rs555449842
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.217_218TC[2] (p.Leu74fs)
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529_2530CT[3] (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) rs1567616135
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2600del (p.Lys867fs)
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter)
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter)
NM_000135.4(FANCA):c.2722_2723CT[4] (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2735_2736CA[2] (p.His913fs) rs1186669727
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2778+1G>A rs140180549
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer) rs1598191053
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800
NM_000135.4(FANCA):c.2T>G (p.Met1Arg)
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) rs1555538740
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.319del (p.Val107fs)
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs)
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3349-1G>A rs769862233
NM_000135.4(FANCA):c.3349-2A>G
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3397del (p.His1133fs)
NM_000135.4(FANCA):c.3400_3402TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3517_3519TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter) rs1598067532
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter)
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3627-1G>C
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)
NM_000135.4(FANCA):c.3755_3756AG[5] (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3913_3914CT[1] (p.Phe1306fs)
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter)
NM_000135.4(FANCA):c.4122_4123CA[1] (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.414_415TG[1] (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4168-2A>G
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.4261-2A>G
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_000135.4(FANCA):c.447dup (p.Glu150fs)
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) rs1598184500
NM_000135.4(FANCA):c.597-1G>C rs147945881
NM_000135.4(FANCA):c.641_642TG[1] (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)
NM_000135.4(FANCA):c.710-5T>C
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) rs1353992080
NM_000135.4(FANCA):c.793-1G>C
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099
NM_000136.2(FANCC):c.-78-?_250+?del
NM_000136.2(FANCC):c.997-?_1154+?del
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1312_1329+68dup rs1554829415
NM_000136.3(FANCC):c.1321_1322del (p.Gln441fs)
NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.139A>T (p.Lys47Ter)
NM_000136.3(FANCC):c.140_143dup (p.Met48fs)
NM_000136.3(FANCC):c.1428_1429CA[1] (p.Thr477fs) rs1588029220
NM_000136.3(FANCC):c.1440dup (p.Ala481fs)
NM_000136.3(FANCC):c.1533+1G>T
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477
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.251-2A>G rs1057517219
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.323C>G (p.Ser108Ter)
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.353T>G (p.Leu118Ter)
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.389_390del (p.Glu130fs) rs1564720605
NM_000136.3(FANCC):c.451A>T (p.Lys151Ter)
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.847C>T (p.Gln283Ter)
NM_000136.3(FANCC):c.883dup (p.Asp295fs)
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)
NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs)
NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter)
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.1(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.1(FANCI):c.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.1(FANCI):c.507G>A (p.Trp169Ter) rs878854181
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs)
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
NM_001113378.2(FANCI):c.876_879del (p.His292fs)
NM_001114636.1(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_001114636.1(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_001114636.1(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_001114636.1(FANCL):c.770_773TCTT[1] (p.Phe258fs) rs1553435610
NM_004629.1(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.1(FANCG):c.1077-2A>G rs769547477
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.1(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.1(FANCG):c.1642C>T (p.Arg548Ter) rs779834525
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.652C>T (p.Gln218Ter) rs1209807088
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs)
NM_004629.2(FANCG):c.1216del (p.Gln406fs) rs758423821
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer) rs753485145
NM_004629.2(FANCG):c.620del (p.Leu207fs)
NM_004629.2(FANCG):c.822_823AG[1] (p.Glu275fs)
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)
NM_018062.4(FANCL):c.40del (p.Leu14fs)
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter)
NM_018193.3(FANCI):c.2815_2819TCCTC[1] (p.Pro941fs) rs1596318782
NM_018193.3(FANCI):c.3444_3445GT[1] (p.Cys1149fs) rs770318990
NM_018193.3(FANCI):c.3482del (p.Lys1161fs) rs1567179036
NM_018193.3(FANCI):c.3489_3492dup (p.Tyr1165fs) rs1596336945
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter) rs765686151
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter) rs1166587869
NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter)
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter)
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) rs797045116
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter) rs1447482674
NM_020937.4(FANCM):c.1675_1676AT[1] (p.Ile559fs)
NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter)
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter) rs778744393
NM_020937.4(FANCM):c.1827_1828dup (p.Lys610fs)
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter)
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266
NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter)
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.2629dup (p.Ser877fs)
NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter) rs1555364837
NM_020937.4(FANCM):c.3442_3443del (p.Leu1149fs)
NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter)
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs)
NM_020937.4(FANCM):c.4304_4305insSVAelement
NM_020937.4(FANCM):c.4477del (p.Arg1493fs)
NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter) rs1594810556
NM_020937.4(FANCM):c.5048_5052del (p.Lys1683fs)
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs) rs1566790465
NM_020937.4(FANCM):c.5530del (p.Gln1844fs)
NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter)
NM_020937.4(FANCM):c.5749_5750del (p.Ser1917fs)
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652
NM_020937.4(FANCM):c.679C>T (p.Gln227Ter)
NM_020937.4(FANCM):c.708_714del (p.Asn237fs)
NM_020937.4(FANCM):c.710del (p.Asn237fs)
NM_022725.3(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.3(FANCF):c.2T>G (p.Met1Arg) rs745495865
NM_022725.3(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.3(FANCF):c.484_485delCT rs587778340
NM_022725.4(FANCF):c.123dup (p.Arg42fs)
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs) rs1266198754
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773
NM_032444.4(SLX4):c.2449del (p.Glu817fs) rs1567170994
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs) rs878855162
NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter)
NM_032444.4(SLX4):c.4133del (p.Pro1378fs)
NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter)
NM_032444.4(SLX4):c.4259dup (p.Ile1421fs)
NM_032444.4(SLX4):c.4862del (p.Leu1621fs) rs1567166544
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter)
NM_032444.4(SLX4):c.59del (p.Leu20fs) rs1315905872
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263
NM_033084.4(FANCD2):c.-33-?_1098+?del
NM_033084.5(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785
NM_033084.5(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_033084.5(FANCD2):c.553dup (p.Arg185fs) rs1553607671
NM_033084.5(FANCD2):c.757C>T (p.Arg253Ter) rs374328858
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
Single allele

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