ClinVar Miner

List of variants in gene FANCI studied for aplastic anemia

Included ClinVar conditions (87):
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Gene type:
ClinVar version:
Total variants: 331
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HGVS dbSNP
FANCI, 2T-C
FANCI, IVS31AS, A-G, -88
NC_000015.10:g.(?_89290203)_(89291724_?)del
NM_001113378.1(FANCI):c.-23G>A rs886051506
NM_001113378.1(FANCI):c.-72C>G rs886051505
NM_001113378.1(FANCI):c.-90T>C rs559714713
NM_001113378.1(FANCI):c.1102G>A (p.Val368Met) rs1060501897
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.1(FANCI):c.1112+3A>G rs367970067
NM_001113378.1(FANCI):c.1113-10G>C rs756650711
NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) rs76788798
NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) rs201871288
NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) rs3743377
NM_001113378.1(FANCI):c.1200T>C (p.Asp400=) rs763959132
NM_001113378.1(FANCI):c.1211T>C (p.Ile404Thr) rs79080874
NM_001113378.1(FANCI):c.1250A>G (p.His417Arg) rs377227097
NM_001113378.1(FANCI):c.1264G>A (p.Gly422Arg) rs146040966
NM_001113378.1(FANCI):c.1278G>T (p.Leu426=) rs1060504377
NM_001113378.1(FANCI):c.1294-8C>T rs16942931
NM_001113378.1(FANCI):c.1294-9_1294-8insA rs1555445524
NM_001113378.1(FANCI):c.1311A>G (p.Arg437=) rs772846275
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) rs199726965
NM_001113378.1(FANCI):c.1412C>G (p.Pro471Arg) rs139072231
NM_001113378.1(FANCI):c.1418T>G (p.Val473Gly) rs200007225
NM_001113378.1(FANCI):c.1420C>A (p.Leu474Ile) rs746777753
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.1(FANCI):c.1512+3A>G rs760846523
NM_001113378.1(FANCI):c.1531A>C (p.Met511Leu) rs1596285157
NM_001113378.1(FANCI):c.1556T>C (p.Leu519Pro) rs998713167
NM_001113378.1(FANCI):c.1564C>A (p.Arg522=) rs371568506
NM_001113378.1(FANCI):c.1564C>T (p.Arg522Trp) rs371568506
NM_001113378.1(FANCI):c.157+7A>G rs145165730
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.158-2A>G rs762128147
NM_001113378.1(FANCI):c.158G>C (p.Gly53Ala) rs149223439
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.1(FANCI):c.1654A>C (p.Ser552Arg) rs1060501899
NM_001113378.1(FANCI):c.1655G>A (p.Ser552Asn) rs1470686039
NM_001113378.1(FANCI):c.1656C>G (p.Ser552Arg) rs1060501901
NM_001113378.1(FANCI):c.1676G>T (p.Ser559Ile) rs1555446426
NM_001113378.1(FANCI):c.1680G>A (p.Gln560=) rs1181466139
NM_001113378.1(FANCI):c.1698+15C>T rs9806604
NM_001113378.1(FANCI):c.1699-3C>G rs372441627
NM_001113378.1(FANCI):c.1699-7C>A rs28446881
NM_001113378.1(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.1(FANCI):c.1704T>C (p.His568=) rs200990786
NM_001113378.1(FANCI):c.1727A>G (p.Asn576Ser) rs573652425
NM_001113378.1(FANCI):c.1735G>A (p.Ala579Thr) rs147963936
NM_001113378.1(FANCI):c.1739A>G (p.Asn580Ser) rs866290050
NM_001113378.1(FANCI):c.1741G>A (p.Glu581Lys) rs768875486
NM_001113378.1(FANCI):c.1765G>A (p.Asp589Asn) rs374176569
NM_001113378.1(FANCI):c.179C>G (p.Ala60Gly) rs757018470
NM_001113378.1(FANCI):c.17T>C (p.Leu6Ser) rs369268726
NM_001113378.1(FANCI):c.1801G>A (p.Val601Ile) rs200007022
NM_001113378.1(FANCI):c.1810A>G (p.Met604Val) rs141879625
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.1822-7del rs1457763718
NM_001113378.1(FANCI):c.1850C>G (p.Ser617Cys) rs749295501
NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln) rs151038616
NM_001113378.1(FANCI):c.1867G>A (p.Val623Ile) rs1174201813
NM_001113378.1(FANCI):c.1890+3A>G rs886051510
NM_001113378.1(FANCI):c.1891-3C>T rs371578898
NM_001113378.1(FANCI):c.1893A>C (p.Leu631Phe) rs118138806
NM_001113378.1(FANCI):c.1900T>A (p.Phe634Ile) rs140965103
NM_001113378.1(FANCI):c.1904A>G (p.Tyr635Cys) rs764435343
NM_001113378.1(FANCI):c.1939T>C (p.Leu647=) rs150231327
NM_001113378.1(FANCI):c.1963G>A (p.Gly655Arg) rs138026584
NM_001113378.1(FANCI):c.196C>T (p.Arg66Cys) rs143105092
NM_001113378.1(FANCI):c.1972A>T (p.Ile658Phe) rs745308624
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2017C>T (p.His673Tyr) rs763866498
NM_001113378.1(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.1(FANCI):c.2023T>C (p.Leu675=) rs144800324
NM_001113378.1(FANCI):c.2026G>T (p.Ala676Ser) rs756986642
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) rs16942969
NM_001113378.1(FANCI):c.2033A>G (p.Tyr678Cys) rs916935359
NM_001113378.1(FANCI):c.2056C>A (p.Gln686Lys) rs28378332
NM_001113378.1(FANCI):c.2063G>T (p.Gly688Val) rs778157971
NM_001113378.1(FANCI):c.2071G>A (p.Glu691Lys) rs144419129
NM_001113378.1(FANCI):c.2097C>T (p.Tyr699=) rs148415946
NM_001113378.1(FANCI):c.2098G>A (p.Glu700Lys) rs199615501
NM_001113378.1(FANCI):c.2131A>T (p.Asn711Tyr) rs766073258
NM_001113378.1(FANCI):c.2169+12G>A rs886051512
NM_001113378.1(FANCI):c.2170-4T>C rs1167442446
NM_001113378.1(FANCI):c.217A>T (p.Ile73Phe) rs138808921
NM_001113378.1(FANCI):c.2183A>G (p.Asp728Gly) rs752114490
NM_001113378.1(FANCI):c.2188T>C (p.Ser730Pro) rs1596304843
NM_001113378.1(FANCI):c.2203A>G (p.Ile735Val) rs377308647
NM_001113378.1(FANCI):c.2204T>C (p.Ile735Thr) rs911033971
NM_001113378.1(FANCI):c.2225G>C (p.Cys742Ser) rs2283432
NM_001113378.1(FANCI):c.2273T>G (p.Phe758Cys) rs750735931
NM_001113378.1(FANCI):c.2278A>G (p.Ile760Val) rs780410177
NM_001113378.1(FANCI):c.2300G>T (p.Arg767Met) rs1555447886
NM_001113378.1(FANCI):c.2318G>A (p.Ser773Asn) rs1192891263
NM_001113378.1(FANCI):c.2326A>G (p.Met776Val) rs150544323
NM_001113378.1(FANCI):c.2348A>G (p.Asp783Gly) rs1363536852
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) rs11857960
NM_001113378.1(FANCI):c.236G>A (p.Gly79Glu) rs1415605220
NM_001113378.1(FANCI):c.2393A>G (p.Asn798Ser) rs548409550
NM_001113378.1(FANCI):c.2406T>C (p.Asp802=) rs147934193
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.1(FANCI):c.2434A>G (p.Ser812Gly) rs768500794
NM_001113378.1(FANCI):c.2455A>G (p.Arg819Gly) rs370996106
NM_001113378.1(FANCI):c.2487T>G (p.Leu829=) rs145762491
NM_001113378.1(FANCI):c.2507A>G (p.Asn836Ser) rs933284199
NM_001113378.1(FANCI):c.2509G>T (p.Glu837Ter) rs748000458
NM_001113378.1(FANCI):c.2519G>A (p.Arg840His) rs777483611
NM_001113378.1(FANCI):c.2519G>T (p.Arg840Leu) rs777483611
NM_001113378.1(FANCI):c.2520C>G (p.Arg840=) rs1210098933
NM_001113378.1(FANCI):c.2533G>A (p.Val845Ile) rs1596307741
NM_001113378.1(FANCI):c.2547= (p.Lys849=) rs7183618
NM_001113378.1(FANCI):c.2547A>G (p.Lys849=) rs7183618
NM_001113378.1(FANCI):c.257C>T (p.Ala86Val) rs17803620
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419
NM_001113378.1(FANCI):c.2629A>T (p.Ile877Leu) rs35875311
NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) rs199627578
NM_001113378.1(FANCI):c.2684C>T (p.Ser895Leu) rs762647324
NM_001113378.1(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824
NM_001113378.1(FANCI):c.2776A>C (p.Lys926Gln) rs1596316742
NM_001113378.1(FANCI):c.2781T>G (p.Ile927Met) rs771106622
NM_001113378.1(FANCI):c.2813A>G (p.Asp938Gly) rs1060501898
NM_001113378.1(FANCI):c.2817G>T (p.Lys939Asn) rs145192583
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.2833G>C (p.Glu945Gln) rs142322239
NM_001113378.1(FANCI):c.2845G>A (p.Val949Ile) rs767462150
NM_001113378.1(FANCI):c.2849G>T (p.Ser950Ile) rs760327010
NM_001113378.1(FANCI):c.284T>A (p.Leu95Gln) rs201553891
NM_001113378.1(FANCI):c.2856T>A (p.Thr952=) rs368915464
NM_001113378.1(FANCI):c.286G>A (p.Glu96Lys) rs149243307
NM_001113378.1(FANCI):c.288+10C>T rs370505986
NM_001113378.1(FANCI):c.288+3A>G rs538283826
NM_001113378.1(FANCI):c.2883A>G (p.Gln961=) rs11556721
NM_001113378.1(FANCI):c.2907A>C (p.Leu969Phe) rs568094959
NM_001113378.1(FANCI):c.290C>T (p.Ala97Val) rs1555442676
NM_001113378.1(FANCI):c.292C>T (p.His98Tyr) rs886051507
NM_001113378.1(FANCI):c.2936G>T (p.Ser979Ile) rs769453869
NM_001113378.1(FANCI):c.2960C>T (p.Thr987Met) rs138432305
NM_001113378.1(FANCI):c.2992C>T (p.Pro998Ser) rs182154506
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3006+15A>C rs2159081
NM_001113378.1(FANCI):c.3016A>G (p.Met1006Val) rs781108611
NM_001113378.1(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896
NM_001113378.1(FANCI):c.3053G>A (p.Ser1018Asn) rs773696866
NM_001113378.1(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939
NM_001113378.1(FANCI):c.3056G>A (p.Arg1019Gln) rs772401747
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001113378.1(FANCI):c.3186+3A>G rs371788349
NM_001113378.1(FANCI):c.3220A>T (p.Ile1074Leu) rs1450182027
NM_001113378.1(FANCI):c.3236C>T (p.Thr1079Met) rs191202700
NM_001113378.1(FANCI):c.3237G>A (p.Thr1079=) rs767103109
NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069
NM_001113378.1(FANCI):c.3247A>G (p.Thr1083Ala) rs886051513
NM_001113378.1(FANCI):c.3255+6dup rs878854178
NM_001113378.1(FANCI):c.3255T>G (p.Cys1085Trp) rs755403672
NM_001113378.1(FANCI):c.326C>G (p.Ala109Gly) rs772968604
NM_001113378.1(FANCI):c.3283G>A (p.Val1095Ile) rs1596325131
NM_001113378.1(FANCI):c.329A>G (p.Asn110Ser) rs368987143
NM_001113378.1(FANCI):c.3310A>C (p.Thr1104Pro) rs768735814
NM_001113378.1(FANCI):c.3377C>G (p.Pro1126Arg) rs78234788
NM_001113378.1(FANCI):c.3379A>G (p.Asn1127Asp) rs878854179
NM_001113378.1(FANCI):c.3384G>A (p.Gln1128=) rs988319051
NM_001113378.1(FANCI):c.3389T>A (p.Val1130Asp) rs764412863
NM_001113378.1(FANCI):c.33A>G (p.Glu11=) rs878854180
NM_001113378.1(FANCI):c.3400A>G (p.Ile1134Val) rs377630829
NM_001113378.1(FANCI):c.3428C>T (p.Thr1143Ile) rs772071601
NM_001113378.1(FANCI):c.3435C>G (p.Phe1145Leu) rs1344945720
NM_001113378.1(FANCI):c.3457C>G (p.Leu1153Val) rs368451326
NM_001113378.1(FANCI):c.3466G>C (p.Gly1156Arg) rs200026076
NM_001113378.1(FANCI):c.3473G>T (p.Cys1158Phe) rs199502679
NM_001113378.1(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917
NM_001113378.1(FANCI):c.3505A>T (p.Met1169Leu) rs757606290
NM_001113378.1(FANCI):c.3525C>A (p.Ala1175=) rs114810692
NM_001113378.1(FANCI):c.3592-8T>C rs185599057
NM_001113378.1(FANCI):c.3604G>C (p.Gly1202Arg) rs747326740
NM_001113378.1(FANCI):c.3652-10A>G rs202231175
NM_001113378.1(FANCI):c.3652-6C>G rs752433847
NM_001113378.1(FANCI):c.3652-9T>C rs971308997
NM_001113378.1(FANCI):c.3660T>C (p.Ser1220=) rs116380142
NM_001113378.1(FANCI):c.3665G>A (p.Ser1222Asn) rs746232111
NM_001113378.1(FANCI):c.3674A>G (p.Tyr1225Cys) rs1351957141
NM_001113378.1(FANCI):c.3677C>T (p.Thr1226Met) rs367665900
NM_001113378.1(FANCI):c.3705C>T (p.Ala1235=) rs185771112
NM_001113378.1(FANCI):c.3706G>A (p.Val1236Ile) rs377165815
NM_001113378.1(FANCI):c.3721-15G>A rs552581027
NM_001113378.1(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734
NM_001113378.1(FANCI):c.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.1(FANCI):c.3832C>T (p.His1278Tyr) rs776134519
NM_001113378.1(FANCI):c.3834C>T (p.His1278=) rs1450412741
NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) rs34557339
NM_001113378.1(FANCI):c.3865A>G (p.Ile1289Val) rs114549781
NM_001113378.1(FANCI):c.3868A>G (p.Lys1290Glu) rs374908061
NM_001113378.1(FANCI):c.3886A>G (p.Met1296Val) rs765052471
NM_001113378.1(FANCI):c.3888G>A (p.Met1296Ile) rs777500700
NM_001113378.1(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330
NM_001113378.1(FANCI):c.3900G>C (p.Glu1300Asp) rs749756525
NM_001113378.1(FANCI):c.3908A>G (p.Glu1303Gly) rs1596343025
NM_001113378.1(FANCI):c.3918T>G (p.Asn1306Lys) rs561190476
NM_001113378.1(FANCI):c.3924+1G>A rs864622739
NM_001113378.1(FANCI):c.394A>G (p.Ile132Val) rs749540937
NM_001113378.1(FANCI):c.406G>A (p.Ala136Thr) rs139181400
NM_001113378.1(FANCI):c.445G>A (p.Gly149Ser) rs763494935
NM_001113378.1(FANCI):c.446-6T>G rs377255054
NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) rs112387610
NM_001113378.1(FANCI):c.475C>G (p.Gln159Glu) rs765463274
NM_001113378.1(FANCI):c.488C>A (p.Thr163Asn) rs574154974
NM_001113378.1(FANCI):c.504-3C>T rs1457153041
NM_001113378.1(FANCI):c.507G>A (p.Trp169Ter) rs878854181
NM_001113378.1(FANCI):c.528A>G (p.Gln176=) rs145939211
NM_001113378.1(FANCI):c.539T>C (p.Met180Thr) rs139834845
NM_001113378.1(FANCI):c.546-6C>T rs754929965
NM_001113378.1(FANCI):c.550G>C (p.Val184Leu) rs571745030
NM_001113378.1(FANCI):c.601A>G (p.Met201Val) rs774564150
NM_001113378.1(FANCI):c.606C>T (p.Phe202=) rs886051508
NM_001113378.1(FANCI):c.670-8_670-6del rs747690719
NM_001113378.1(FANCI):c.753C>T (p.Asp251=) rs151169233
NM_001113378.1(FANCI):c.756-4T>G rs1332788738
NM_001113378.1(FANCI):c.793C>T (p.Arg265Cys) rs753511061
NM_001113378.1(FANCI):c.824T>C (p.Ile275Thr) rs142906652
NM_001113378.1(FANCI):c.83A>G (p.Asp28Gly) rs1060501902
NM_001113378.1(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.1(FANCI):c.868G>A (p.Val290Met) rs113772230
NM_001113378.1(FANCI):c.905A>G (p.Asn302Ser) rs575416245
NM_001113378.1(FANCI):c.919C>T (p.Pro307Ser) rs769485443
NM_001113378.1(FANCI):c.92A>G (p.Asn31Ser) rs745341673
NM_001113378.1(FANCI):c.956T>C (p.Ile319Thr) rs1024430096
NM_001113378.1(FANCI):c.976-13A>T rs145864790
NM_001113378.1(FANCI):c.993G>A (p.Lys331=) rs146916445
NM_001113378.2(FANCI):c.-10A>G
NM_001113378.2(FANCI):c.-56T>C
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=)
NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg)
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile)
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=) rs201002833
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val)
NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro)
NM_001113378.2(FANCI):c.1472T>C (p.Leu491Pro)
NM_001113378.2(FANCI):c.1479T>G (p.Leu493=) rs775006497
NM_001113378.2(FANCI):c.1491A>C (p.Gln497His)
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser)
NM_001113378.2(FANCI):c.157+78G>A
NM_001113378.2(FANCI):c.1583+142C>T
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs)
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn)
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter)
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro)
NM_001113378.2(FANCI):c.1890+10A>G
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser)
NM_001113378.2(FANCI):c.2057A>G (p.Gln686Arg)
NM_001113378.2(FANCI):c.2096A>C (p.Tyr699Ser)
NM_001113378.2(FANCI):c.2104C>T (p.Leu702=) rs376376537
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)
NM_001113378.2(FANCI):c.2200A>G (p.Ser734Gly)
NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg)
NM_001113378.2(FANCI):c.2292-11G>C
NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile)
NM_001113378.2(FANCI):c.2390C>T (p.Ala797Val)
NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr)
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu)
NM_001113378.2(FANCI):c.2602G>C (p.Glu868Gln)
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser)
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=)
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp)
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr)
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr)
NM_001113378.2(FANCI):c.3006+3A>G
NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg)
NM_001113378.2(FANCI):c.3058+1G>A
NM_001113378.2(FANCI):c.3058+4A>G
NM_001113378.2(FANCI):c.3059-4C>T rs747570773
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3162C>T (p.His1054=)
NM_001113378.2(FANCI):c.3187-3C>G
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe)
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys)
NM_001113378.2(FANCI):c.3350-88A>G
NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs)
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg)
NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile)
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=)
NM_001113378.2(FANCI):c.3538-2A>T
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val)
NM_001113378.2(FANCI):c.3592-12C>T
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=)
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=)
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val)
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp)
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met)
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)
NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs)
NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys)
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
NM_001113378.2(FANCI):c.463G>A (p.Glu155Lys)
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val)
NM_001113378.2(FANCI):c.595T>C (p.Leu199=) rs373954813
NM_001113378.2(FANCI):c.623A>G (p.Gln208Arg)
NM_001113378.2(FANCI):c.669+8T>C rs942269232
NM_001113378.2(FANCI):c.696A>T (p.Gly232=)
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr)
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) rs542117175
NM_001113378.2(FANCI):c.756-25_756-19del
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala)
NM_001113378.2(FANCI):c.819A>T (p.Leu273=) rs1596258380
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)
NM_001113378.2(FANCI):c.876_879del (p.His292fs)
NM_001113378.2(FANCI):c.883-9C>T rs563201817
NM_001113378.2(FANCI):c.911A>G (p.Asn304Ser)
NM_001113378.2(FANCI):c.933_935TCT[2] (p.Leu314del)
NM_001113378.2(FANCI):c.976-5T>C rs775680372
NM_018193.3(FANCI):c.1028_1030TCC[1] (p.Leu344del) rs770583031
NM_018193.3(FANCI):c.1743A>C (p.Glu581Asp) rs779310267
NM_018193.3(FANCI):c.2066_2077AGGAGGAAGAGG[1] (p.Glu693_Glu696del) rs878854176
NM_018193.3(FANCI):c.2675_2689delinsTTG (p.Thr892_Phe897delinsIleVal) rs1555448946
NM_018193.3(FANCI):c.2815_2819TCCTC[1] (p.Pro941fs) rs1596318782
NM_018193.3(FANCI):c.3313del (p.Asp1105fs) rs758597713
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_018193.3(FANCI):c.3636+17_3636+19del rs374324314
NM_018193.3(FANCI):c.3673C>T (p.Arg1225Ter) rs121918164
NM_018193.3(FANCI):c.3674G>A (p.Arg1225Gln) rs121918163
NM_018193.3(FANCI):c.557T>C (p.Leu186Pro) rs1370113722
NM_018193.3(FANCI):c.669+17_669+18del rs751881445

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