ClinVar Miner

Variants studied for Fanconi anemia

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
108 34 1325 633 311 1 2270

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
SLX4 7 2 240 110 54 0 381
FANCA 41 10 179 86 34 0 328
FANCI 7 1 140 46 34 0 209
AOPEP, FANCC 6 6 116 49 13 0 185
FANCM 0 0 125 38 32 1 175
BRCA2 0 0 29 77 17 0 123
FANCC 17 1 68 20 5 0 108
FANCD2, LOC107303338 5 1 52 33 29 0 105
FANCG 7 3 56 21 7 0 93
BRIP1 1 0 60 29 0 0 90
FANCF 1 1 62 19 16 0 90
FANCA, ZNF276 2 3 41 26 9 0 75
FANCB 0 1 30 7 23 0 61
FANCD2, FANCD2OS 0 0 30 5 9 0 43
FANCL 3 2 17 11 4 0 36
PALB2 0 0 9 23 3 0 35
FANCE 0 0 25 5 3 0 33
FANCL, VRK2 1 3 18 7 5 0 32
FANCI, POLG 1 0 13 6 5 0 25
FANCA, LOC112486223 5 0 6 3 2 0 14
RAD51C 0 0 2 6 0 0 8
FANCD2 1 0 4 2 0 0 7
FANCG, VCP 0 0 1 2 6 0 6
BRCA2, LOC106721785 0 0 1 2 1 0 4
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 2
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 103 34 812 357 238 1 1545
Illumina Clinical Services Laboratory,Illumina 1 0 559 276 77 0 913
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 0 4

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