ClinVar Miner

List of variants reported as likely pathogenic for Fanconi anemia by Invitae

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_58386890)_(58393019_?)del
NC_000016.9:g.(?_3634764)_(3634878_?)dup
NC_000016.9:g.(?_89811357)_(89851382_?)dup
NC_000016.9:g.(?_89811367)_(89851372_?)dup
NC_000016.9:g.(?_89831292)_(89846371_?)del
NC_000016.9:g.(?_89864654)_(89866056_?)dup
NC_000017.10:g.(?_56787210)_(56787361_?)del
NC_000017.10:g.(?_56787214)_(56787357_?)del
NC_000017.10:g.(?_56798101)_(56798179_?)dup
NC_000017.10:g.(?_56811473)_(56811589_?)del
NC_000017.10:g.(?_59861625)_(59937274_?)dup
NC_000017.10:g.(?_59924462)_(59926617_?)dup
NC_000017.10:g.(?_59938802)_(59938906_?)del
NC_000023.10:g.(?_14875974)_(14877466_?)del
NM_000135.4(FANCA):c.1776+1G>A rs756140957
NM_000135.4(FANCA):c.1900+1G>T
NM_000135.4(FANCA):c.2317-1G>T
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.2852+2T>G
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.3408+1G>C rs1567601557
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.4(FANCA):c.3828+1G>C rs1432988639
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000135.4(FANCA):c.426+2T>G
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.3(FANCC):c.1329+1G>T rs1554829441
NM_000136.3(FANCC):c.346-1G>T
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.687-1G>A
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) rs879254329
NM_001113378.1(FANCI):c.3924+1G>A rs864622739
NM_004629.1(FANCG):c.1747G>T (p.Glu583Ter) rs786204205
NM_004629.1(FANCG):c.777+1G>A rs1060501862
NM_004629.1(FANCG):c.778-1G>A rs767518932
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_018062.3(FANCL):c.1049_1050AG[1] (p.Ser351fs) rs750871999
NM_018062.3(FANCL):c.1092+1_1092+5delGTAAG rs1558727300
NM_018062.3(FANCL):c.216+1G>T rs1205006300
NM_018062.3(FANCL):c.273+1G>A
NM_018062.3(FANCL):c.692-2A>G rs1558737575
NM_022725.3(FANCF):c.2T>G (p.Met1Arg) rs745495865
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1140+1G>A rs1555607628
NM_032043.2(BRIP1):c.1340+1G>A rs1555607022
NM_032043.2(BRIP1):c.1629-1G>T rs1060501757
NM_032043.2(BRIP1):c.1794+1G>C
NM_032043.2(BRIP1):c.1936-1G>C
NM_032043.2(BRIP1):c.1936-2A>G rs878855143
NM_032043.2(BRIP1):c.205+2T>G rs1060501763
NM_032043.2(BRIP1):c.206-1G>T rs1555617934
NM_032043.2(BRIP1):c.206-2A>G rs786203700
NM_032043.2(BRIP1):c.2097+1G>C rs786202941
NM_032043.2(BRIP1):c.2097+1G>T
NM_032043.2(BRIP1):c.2258-1G>A rs1064793887
NM_032043.2(BRIP1):c.2380-1G>A rs1567756032
NM_032043.2(BRIP1):c.2492+2dupT rs587780240
NM_032043.2(BRIP1):c.2492_2492+5del
NM_032043.2(BRIP1):c.2493-1G>A rs786203451
NM_032043.2(BRIP1):c.2493-2A>G
NM_032043.2(BRIP1):c.2493-?_2575+?dup
NM_032043.2(BRIP1):c.2576-1G>A rs587782539
NM_032043.2(BRIP1):c.2576-2A>G rs869312763
NM_032043.2(BRIP1):c.2905+1G>A rs876660203
NM_032043.2(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.2(BRIP1):c.3015dup (p.Asn1006Ter)
NM_032043.2(BRIP1):c.3196del (p.Ser1066fs) rs730881645
NM_032043.2(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.2(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000
NM_032043.2(BRIP1):c.3310G>T (p.Glu1104Ter) rs1555572698
NM_032043.2(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.2(BRIP1):c.3386_3389CTAT[1] (p.Tyr1131fs) rs778664039
NM_032043.2(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.2(BRIP1):c.508-1G>C rs864622277
NM_032043.2(BRIP1):c.508-2A>T rs876659707
NM_032043.2(BRIP1):c.627+1G>A rs587780833
NM_032043.2(BRIP1):c.628-1G>A
NM_032043.2(BRIP1):c.628-5_629delTACAGCC rs1555609402
NM_032043.2(BRIP1):c.918+1G>A rs587781655
NM_032043.2(BRIP1):c.919-?_1140+?del
NM_032043.2(BRIP1):c.93+1G>A rs587782047
NM_032043.2(BRIP1):c.93+1G>T rs587782047
NM_032043.2(BRIP1):c.93+2T>C
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs) rs781479923
NM_033084.5(FANCD2):c.491+1G>A
NM_058216.1(RAD51C):c.571+1delG rs1327086366
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.1027-2A>G rs587780835
NM_058216.3(RAD51C):c.1039A>T (p.Arg347Ter) rs1555605532
NM_058216.3(RAD51C):c.1057_1066del (p.Ser353fs) rs1064792966
NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG rs878855177
NM_058216.3(RAD51C):c.404+2T>C rs730881931
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.405-1G>A rs587782036
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999
NM_058216.3(RAD51C):c.571+2T>A rs1567789009
NM_058216.3(RAD51C):c.572-2A>G rs145310733
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.837+1del rs1555599288
NM_058216.3(RAD51C):c.838-2A>G rs748589398
NM_058216.3(RAD51C):c.904+5G>T rs587782702
NM_058216.3(RAD51C):c.905-2del rs876658652
NM_058216.3(RAD51C):c.964del (p.Arg322fs) rs1555603056
NM_058216.3(RAD51C):c.965+1G>A rs730881933
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074

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.