ClinVar Miner

List of variants reported as likely pathogenic for Fanconi anemia

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Total variants: 47
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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_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_018062.3(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294
NM_018062.3(FANCL):c.1049_1050AG[1] (p.Ser351fs) rs750871999
NM_018062.3(FANCL):c.1092+1_1092+5del 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_032444.4(SLX4):c.5229dup (p.Gln1744fs) rs781479923
NM_033084.5(FANCD2):c.491+1G>A

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