ClinVar Miner

Variants studied for aplastic anemia

Included ClinVar conditions (88):
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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 association risk factor not provided total
1517 532 5384 1298 748 1 4 5 8951

Gene and significance breakdown #

Total genes and gene combinations: 94
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
BRIP1 189 94 1281 278 50 0 0 0 1818
FANCA 475 153 541 147 61 0 0 0 1251
RAD51C 86 52 467 93 8 0 0 0 686
SLX4 26 5 455 99 83 0 0 0 633
FANCM 35 10 455 64 31 0 0 0 593
FANCI 35 8 268 50 39 0 0 0 373
AOPEP, FANCC 38 46 210 68 23 0 0 0 354
BRCA2 40 1 148 68 28 0 0 1 283
FANCA, ZNF276 66 24 114 31 21 0 0 0 232
FANCD2, LOC107303338 30 5 130 45 38 0 0 0 223
FANCG 54 8 123 39 8 0 0 0 219
FANCC 47 37 110 34 7 0 0 0 209
MPL 31 25 73 42 18 0 0 0 165
FANCE 12 4 121 16 16 0 0 0 158
FANCF 13 1 105 20 24 0 0 0 156
FANCB 22 2 66 22 44 0 0 0 151
ERCC4 11 3 88 24 14 0 0 0 136
PALB2 17 0 66 17 7 0 0 2 108
TERT 21 3 50 17 36 0 0 2 95
FANCD2, FANCD2OS 6 1 62 9 11 0 0 0 84
ACD 2 1 65 6 10 0 0 0 82
FANCL 12 5 50 12 6 0 0 0 80
SRP72 2 0 34 3 34 0 0 0 73
RPS19 21 3 22 10 11 0 0 0 66
FANCL, VRK2 5 8 35 9 7 0 0 0 59
DIPK1A, RPL5 21 3 22 3 10 1 1 0 58
BRCA1 28 0 20 0 2 0 0 0 50
RPL11 14 1 13 5 6 0 0 0 39
GATA1 8 2 11 2 13 0 0 0 36
RPS10, RPS10-NUDT3 4 1 13 6 13 0 0 0 36
RPS24 8 0 7 9 12 0 0 0 35
FANCI, POLG 2 0 20 6 10 0 0 0 34
RPS26 12 1 7 8 7 0 0 0 34
RPS7 3 1 15 9 7 0 0 0 34
FANCA, LOC112486223 13 7 13 1 3 0 0 0 33
IQCG, RPL35A 8 1 9 2 5 0 0 0 24
NBN 3 1 19 0 0 0 0 0 23
TERC 20 1 0 0 0 0 0 0 21
FANCD2 8 2 7 1 2 0 0 0 20
IFNG 0 0 15 2 2 0 0 0 19
RPL5 1 0 6 4 9 0 0 0 19
XRCC2 0 1 13 3 0 0 0 0 17
PIGA 10 2 1 0 0 0 0 0 13
BRIP1, LOC110120932 1 1 5 0 0 0 0 0 7
PIGT 0 0 4 0 0 0 3 0 7
RPL26 1 0 4 1 1 0 0 0 7
BRCA2, LOC106721785 0 0 3 2 1 0 0 0 6
FANCG, VCP 1 0 2 3 6 0 0 0 6
LOC110806263, TERT 2 0 3 1 0 0 0 0 6
ERCC6L2 2 1 2 0 0 0 0 0 5
RPS10 0 1 0 3 1 0 0 0 5
UBE2T 5 0 0 0 0 0 0 0 5
​intergenic 4 0 0 0 0 0 0 0 4
POLR3A, RPS24 0 0 0 3 2 0 0 0 4
RPS17 4 0 0 0 0 0 0 0 4
LOC110806306, TERC 2 0 1 0 0 0 0 0 3
NKIRAS1, RPL15 1 1 1 0 0 0 0 0 3
RAD51 2 1 0 0 0 0 0 0 3
RFWD3 2 0 1 0 0 0 0 0 3
RPS29 2 1 1 0 0 0 0 0 3
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 0 0 2
PRF1 2 0 0 0 0 0 0 0 2
RPS20 2 0 0 0 0 0 0 0 2
SBDS 2 0 0 0 0 0 0 0 2
SH2B3 1 0 1 0 0 0 0 0 2
TP53 2 0 0 0 0 0 0 0 2
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC106794092, LOC112533665, LOC116276454, MIR4314, MIR4521, MIR6883, NAA38, ODF4, PER1, PFAS, RANGRF, RNF227, RPL26, SCARNA21, SLC25A35, SNORD118, TMEM107, TMEM88, TP53, TRAPPC1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, VAMP2, WRAP53 1 0 0 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 0 1
BRDT, BTBD8, C1orf146, CCDC18, DIPK1A, DR1, EPHX4, EVI5, FNBP1L, GFI1, GLMN, KIAA1107, MTF2, RPAP2, RPL5, SNORD21, TMED5 1 0 0 0 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 0 1
DDX41 0 0 1 0 0 0 0 0 1
DIPK1A, RPL5, SNORA66 0 0 0 0 1 0 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 0 0 1
FANCA, LOC112486223, ZNF276 1 0 0 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 0 0 0 1
GATA1, GLOD5, SUV39H1, WAS 0 0 1 0 0 0 0 0 1
GATA1, LOC119407405 0 0 0 1 0 0 0 0 1
IKZF4, LOC116268441, RPS26 1 0 0 0 0 0 0 0 1
INSL6, JAK2 1 1 0 0 0 0 0 0 1
LOC110806306 1 0 0 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 0 1
MIR6797, RPS19 0 0 1 0 0 0 0 0 1
RPL18 1 0 0 0 0 0 0 0 1
RPL27 1 0 0 0 0 0 0 0 1
RPL35 1 0 0 0 0 0 0 0 1
RPS15A 1 0 0 0 0 0 0 0 1
RPS27 1 0 0 0 0 0 0 0 1
RPS28 1 0 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 0 0 1
SRC 0 1 0 0 0 0 0 0 1
TINF2 1 0 0 0 0 0 0 0 1
TSR2 1 0 0 0 0 0 0 0 1
ZNF699 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 693 219 3912 928 449 0 0 0 6200
Illumina Clinical Services Laboratory,Illumina 3 4 1250 298 458 0 0 0 1979
Leiden Open Variation Database 617 8 114 1 0 0 0 0 740
Counsyl 46 198 223 62 18 0 0 0 546
Fulgent Genetics,Fulgent Genetics 65 7 193 1 3 0 0 0 269
Mendelics 15 18 129 54 14 0 0 0 230
OMIM 223 0 1 0 0 0 1 0 225
Myriad Women's Health, Inc. 5 46 0 0 0 0 0 0 51
GeneReviews 48 0 0 0 0 0 0 0 48
Natera, Inc. 6 0 12 8 7 0 0 0 33
Baylor Genetics 19 7 2 0 0 0 0 0 28
Integrated Genetics/Laboratory Corporation of America 17 11 0 0 0 0 0 0 28
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 12 13 0 0 0 0 0 0 25
Genetic Services Laboratory,University of Chicago 16 5 0 0 0 0 0 0 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 17 0 0 0 0 0 21
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 1 11 0 1 0 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 3 3 5 0 0 0 12
Johns Hopkins Genomics,Johns Hopkins University 1 2 7 1 0 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 7 0 0 0 0 0 10
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 4 5 0 0 0 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 3 0 0 0 0 0 0 8
Degerman lab,Umeå University 5 2 1 0 0 0 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 3 1 0 0 0 0 0 7
NIHR Bioresource Rare Diseases, University of Cambridge 0 7 0 0 0 0 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 6 0 0 0 0 0 0 0 6
Department of Hematology,University of Health Sciences 0 2 0 2 0 0 0 0 4
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 0 0 1 0 0 0 4
Broad Institute Rare Disease Group,Broad Institute 0 0 3 0 1 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 1 0 0 0 0 0 3
Daryl Scott Lab,Baylor College of Medicine 3 0 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 0 0 0 3
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 2 1 0 0 0 0 3
Medical Genetics Institute,Shaare Zedek Medical Center 2 0 0 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 0 0 2
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 0 0 0 0 0 0 0 2 2
Center for Individualized Medicine,Mayo Clinic 0 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 0 0 0 2 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 0 0 0 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 0 0 2
Department of Pediatrics,Hirosaki University Graduate School of Medicine 2 0 0 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 0 0 0 0 0 2
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 0 2 0 0 0 0 0 0 2
Bertuch Lab,Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences,Imam Abdulrahman Bin Faisal University 0 0 0 0 0 1 1 0 2
King Laboratory, University of Washington 1 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 0 0 1
Bone Marrow Failure laboratory,Queen Mary University London 0 0 1 0 0 0 0 0 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Research Group Niklas Dahl,Uppsala University 0 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 0 0 1
Clinical Genomics Program,Stanford Medicine 1 0 0 0 0 0 0 0 1
Gastroenterology Department,Qilu Hospital of Shandong University 0 0 1 0 0 0 0 0 1

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