ClinVar Miner

List of variants in gene FANCI reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896 0.00011
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 0.00002
NM_001113378.2(FANCI):c.157+78G>A rs963339667 0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) rs1347292940 0.00001
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) rs551399966 0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001113378.2(FANCI):c.2761C>T (p.Gln921Ter) rs1303324683 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_001113378.2(FANCI):c.3058+1G>A rs149464307 0.00001
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) rs756691827 0.00001
NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter) rs771312042 0.00001
NC_000015.9:g.(?_89790879)_(89805129_?)del
NC_000015.9:g.(?_89790879)_(89807858_?)del
NC_000015.9:g.(?_89790879)_(89811776_?)del
NC_000015.9:g.(?_89801915)_(89802027_?)del
NC_000015.9:g.(?_89801915)_(89805129_?)del
NC_000015.9:g.(?_89804796)_(89807858_?)del
NC_000015.9:g.(?_89824391)_(89828459_?)del
NC_000015.9:g.(?_89840554)_(89848657_?)del
NC_000015.9:g.(?_89847877)_(89848838_?)del
NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)
NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter)
NM_001113378.2(FANCI):c.1152dup (p.Leu385fs)
NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)
NM_001113378.2(FANCI):c.1202del (p.Gly401fs)
NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg) rs146040966
NM_001113378.2(FANCI):c.1312_1313del (p.Gln438fs)
NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter) rs2151549770
NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter)
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
NM_001113378.2(FANCI):c.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG (p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) rs2151580463
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs) rs2053682638
NM_001113378.2(FANCI):c.1816del (p.Tyr606fs)
NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter)
NM_001113378.2(FANCI):c.1880_1886del (p.Leu627fs)
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
NM_001113378.2(FANCI):c.1903del (p.Tyr635fs)
NM_001113378.2(FANCI):c.1978_1979del (p.Leu660fs)
NM_001113378.2(FANCI):c.1986dup (p.Pro663fs)
NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)
NM_001113378.2(FANCI):c.2029del (p.Trp677fs) rs2151724213
NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter)
NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter)
NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)
NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter)
NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg) rs2054124504
NM_001113378.2(FANCI):c.2324_2327del (p.Phe775fs)
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
NM_001113378.2(FANCI):c.2340dup (p.Leu781fs)
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.2346_2347insTT (p.Asp783fs) rs2151740576
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
NM_001113378.2(FANCI):c.2413_2414del (p.Leu805fs)
NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter)
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter)
NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr) rs1361710673
NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter)
NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter)
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs) rs745893292
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
NM_001113378.2(FANCI):c.2833_2834del (p.Glu945fs)
NM_001113378.2(FANCI):c.2838del (p.Asp946fs)
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.2861_2862del (p.Arg954fs)
NM_001113378.2(FANCI):c.2900del (p.Leu966_Leu967insTer)
NM_001113378.2(FANCI):c.2933del (p.Asn978fs)
NM_001113378.2(FANCI):c.2946_2947del (p.Leu983fs)
NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)
NM_001113378.2(FANCI):c.295del (p.His99fs) rs759398314
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) rs2052048258
NM_001113378.2(FANCI):c.3000_3004del (p.Pro1001fs) rs1596318782
NM_001113378.2(FANCI):c.3058+4A>G rs2054616468
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter)
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter)
NM_001113378.2(FANCI):c.3350-88A>G rs2054700381
NM_001113378.2(FANCI):c.339dup (p.Ser114Ter)
NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs) rs2054707218
NM_001113378.2(FANCI):c.3469_3472dup (p.Cys1158Ter) rs2151924296
NM_001113378.2(FANCI):c.3471_3477del (p.Ser1157fs)
NM_001113378.2(FANCI):c.3492_3493delinsT (p.Lys1164fs)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
NM_001113378.2(FANCI):c.3520dup (p.Thr1174fs)
NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile) rs757106031
NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs)
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg) rs747326740
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs) rs1567175626
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.2(FANCI):c.3664_3665insCT (p.Ser1222fs)
NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs) rs1596336945
NM_001113378.2(FANCI):c.3673_3679dup (p.Gly1227fs)
NM_001113378.2(FANCI):c.3684dup (p.Lys1229fs)
NM_001113378.2(FANCI):c.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs) rs2152017390
NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)
NM_001113378.2(FANCI):c.3849_3853del (p.Ser1284fs)
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs) rs2055186253
NM_001113378.2(FANCI):c.3907G>T (p.Glu1303Ter) rs544848412
NM_001113378.2(FANCI):c.474dup (p.Gln159fs)
NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)
NM_001113378.2(FANCI):c.483dup (p.Asn162Ter)
NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter) rs878854181
NM_001113378.2(FANCI):c.508del (p.Asp170fs)
NM_001113378.2(FANCI):c.509del (p.Asp170fs)
NM_001113378.2(FANCI):c.630dup (p.Pro211fs)
NM_001113378.2(FANCI):c.632del (p.Pro211fs)
NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter)
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
NM_001113378.2(FANCI):c.756-25_756-19del rs2053061271
NM_001113378.2(FANCI):c.834del (p.Ile279fs) rs748961800
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) rs1210148997
NM_001113378.2(FANCI):c.876_879del (p.His292fs) rs2053066105
NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter)
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter) rs754986558
NM_001113378.2(FANCI):c.912_916del (p.Asn304fs)
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.