ClinVar Miner

List of variants studied for Fanconi anemia by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.*673del rs17233826 0.48664
NM_002693.3(POLG):c.3643+257T>G rs1061316 0.48343
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_032043.3(BRIP1):c.*2082_*2085del rs10601136 0.37829
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_004629.1(FANCG):c.-453_-452insT rs16935545 0.12501
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_021922.3(FANCE):c.*216del rs45584740 0.08934
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NC_000009.12:g.35080028T>A rs17885140 0.05593
NM_000135.4(FANCA):c.*679del rs375657470 0.04486
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_032043.3(BRIP1):c.*283del rs531656835 0.00584
NM_002693.3(POLG):c.3644-72C>A rs1801377 0.00312
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000136.3(FANCC):c.*97dup rs1057515705 0.00052
NM_001018115.3(FANCD2):c.4281+355A>G rs770674504 0.00039
NM_032043.3(BRIP1):c.-237dup rs112243287 0.00026
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_002693.3(POLG):c.3644-16T>C rs536522307 0.00012
NM_058216.3(RAD51C):c.*25C>G rs28363336 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000135.4(FANCA):c.189+12C>G rs753101174 0.00009
NM_002693.3(POLG):c.*122G>A rs886051517 0.00009
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000135.4(FANCA):c.*166G>A rs886052479 0.00004
NM_000059.4(BRCA2):c.*345A>G rs886050113 0.00003
NM_002693.3(POLG):c.3644-116T>C rs777372106 0.00003
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro) rs200842643 0.00003
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217 0.00001
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155 0.00001
NM_000059.4(BRCA2):c.963A>G (p.Gln321=) rs276174927 0.00001
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=) rs772846275 0.00001
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr) rs765095688 0.00001
NM_032043.3(BRIP1):c.*339G>C rs886053212 0.00001
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731 0.00001
NM_000059.4(BRCA2):c.*360dup rs886050114
NM_000059.4(BRCA2):c.*416G>T rs886050116
NM_000059.4(BRCA2):c.*675C>A rs886050117
NM_000059.4(BRCA2):c.*839del rs75353978
NM_000059.4(BRCA2):c.-59_-57del rs545321666
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000135.4(FANCA):c.*672del rs66471129
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000136.3(FANCC):c.*338C>A rs920400068
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*715AGTT[2] rs56250966
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001113378.2(FANCI):c.3816+17_3816+19del rs374324314
NM_001113378.2(FANCI):c.3925-84_3925-81dup rs1444126104
NM_001113378.2(FANCI):c.669+17_669+18del rs751881445
NM_002693.3(POLG):c.*49dup rs3087377
NM_002693.3(POLG):c.3644-178_3644-176dup rs1555452148
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly) rs144346886
NM_004629.2(FANCG):c.-182del rs886063899
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_018062.4(FANCL):c.*447_*450del rs748896681
NM_018062.4(FANCL):c.776-10dup rs374236117
NM_020937.4(FANCM):c.*100TTTA[1] rs886050504
NM_020937.4(FANCM):c.*140_*144del rs886050505
NM_020937.4(FANCM):c.*254dup rs112491585
NM_020937.4(FANCM):c.2160+10A>G rs767254996
NM_021922.3(FANCE):c.*729A>G rs886061334
NM_022725.4(FANCF):c.*1338dup rs45554234
NM_022725.4(FANCF):c.*650ATTAA[1] rs886048154
NM_022725.4(FANCF):c.*695dup rs796646840
NM_022725.4(FANCF):c.261_263del (p.His88del) rs886048158
NM_024675.4(PALB2):c.2507_2509del (p.Val836del) rs587782697
NM_032043.3(BRIP1):c.*1048_*1050del rs564290244
NM_032043.3(BRIP1):c.*1255AG[1] rs886053209
NM_032043.3(BRIP1):c.*2811_*2815dup rs768910110
NM_032043.3(BRIP1):c.*2812_*2815dup rs768910110
NM_032043.3(BRIP1):c.*2813_*2815A[4]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2813_*2815A[5]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2813_*2815A[6]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2817_*2818insGAAAGA rs886053202
NM_032043.3(BRIP1):c.*2819_*2820insAAAA rs551338531
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAA rs551338531
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAAA rs551338531
NM_032043.3(BRIP1):c.*3114del rs35235448
NM_032043.3(BRIP1):c.*394CT[1] rs546666211
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032444.4(SLX4):c.*298_*301del rs566716185
NM_032444.4(SLX4):c.-143_-140del rs779611690
NM_032444.4(SLX4):c.-211dup rs149138178
NM_032444.4(SLX4):c.4650GAA[2] (p.Lys1552del) rs760517738

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