ClinVar Miner

Variants studied for aplastic anemia

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
921 447 4058 792 197 5 27 6242

Gene and significance breakdown #

Total genes and gene combinations: 101
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
BRIP1 127 75 904 119 12 0 0 1204
FANCA 108 110 272 44 8 0 0 510
RAD51C 61 38 339 45 6 0 0 474
TERT 44 11 306 59 11 0 2 412
SLX4 16 5 287 56 6 0 0 368
FANCM 0 1 236 23 10 1 0 264
AOPEP, FANCC 18 42 162 24 4 0 0 239
FANCI 13 6 171 26 4 0 0 219
RTEL1, RTEL1-TNFRSF6B 19 39 143 11 10 0 0 214
BRCA2 39 1 62 77 18 0 1 196
FANCC 26 30 81 13 1 0 0 138
FANCD2, LOC107303338 10 3 65 26 17 0 0 115
FANCA, ZNF276 6 21 65 18 4 0 0 111
CTC1 11 2 84 8 4 0 0 109
FANCG 19 3 71 8 3 0 0 103
MPL 22 9 36 34 4 0 0 97
FANCE 4 1 78 10 3 0 0 96
FANCF 5 2 71 11 4 0 0 93
TINF2 24 1 39 15 3 0 0 80
TERC 30 2 45 0 0 0 0 76
PALB2 15 0 31 23 3 0 1 73
DKC1 45 4 7 4 1 0 23 61
FANCB 22 2 29 5 3 0 0 61
ERCC4 8 1 39 5 4 0 0 56
SRP72 2 0 19 20 14 0 0 55
BRCA1 28 0 20 0 2 0 0 50
FANCD2, FANCD2OS 1 1 32 4 8 0 0 46
RPS19 15 3 14 11 3 0 0 45
FANCL 8 4 23 5 0 0 0 40
PARN 13 1 24 2 0 0 0 39
DIPK1A, RPL5 17 3 11 6 0 1 0 37
FANCL, VRK2 5 5 24 3 1 0 0 35
ACD 2 1 25 0 2 0 0 29
LOC110806263, TERT 3 0 22 2 0 0 0 27
FANCA, LOC112486223 10 7 8 3 0 0 0 26
FANCI, POLG 1 0 15 5 6 0 0 26
RPL11 12 1 7 5 2 0 0 26
RPS10, RPS10-NUDT3 4 0 7 12 3 0 0 26
NBN 3 1 19 0 0 0 0 23
RPS7 2 1 11 7 2 0 0 23
RPS24 7 0 5 9 1 0 0 22
RPS26 8 1 6 4 3 0 0 22
RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 19 0 1 0 0 20
LOC110806306, TERC 9 0 11 0 0 0 0 19
DCLRE1B 0 0 18 0 0 0 0 18
IQCG, RPL35A 8 0 4 6 0 0 0 18
XRCC2 0 0 13 3 0 0 0 16
RPL5 1 0 8 6 0 0 0 15
FANCD2 3 2 5 2 0 0 0 12
GATA1 5 1 5 0 1 0 0 12
IFNG 0 0 10 2 0 0 0 12
NHP2 0 0 12 0 0 0 0 12
PIGA 10 0 1 0 0 0 0 11
WRAP53 5 0 4 2 0 0 0 11
BRIP1, LOC110120932 1 1 5 0 0 0 0 7
NHP2, RMND5B 3 0 3 0 0 0 0 6
PIGT 0 0 3 0 0 3 0 6
NOP10 2 0 3 0 0 0 0 5
BRCA2, LOC106721785 0 0 1 2 1 0 0 4
CTC1, PFAS 0 0 4 0 0 0 0 4
ERCC6L2 2 0 2 0 0 0 0 4
FANCG, VCP 0 0 1 2 1 0 0 4
POLR3A, RPS24 0 0 0 3 1 0 0 4
RPL26 1 0 3 0 0 0 0 4
RPS17 4 0 0 0 0 0 0 4
LOC110806263, LOC110806264, TERT 0 0 3 0 0 0 0 3
RPS29 2 0 1 0 0 0 0 3
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 0 2
ARFRP1, RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 2 0 0 0 0 2
NKIRAS1, RPL15 1 0 1 0 0 0 0 2
PRF1 2 0 0 0 0 0 0 2
RAD51 1 1 0 0 0 0 0 2
RFWD3 2 0 0 0 0 0 0 2
SBDS 2 0 0 0 0 0 0 2
SH2B3 1 0 1 0 0 0 0 2
TP53 2 0 0 0 0 0 0 2
UBE2T 2 0 0 0 0 0 0 2
ACTRT3, LOC110806306, TERC 1 0 0 0 0 0 0 1
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 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 1
DIPK1A, RPL5, SNORA66 0 0 0 0 1 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 0 1
FANCA, LOC112486223, ZNF276 1 0 0 0 0 0 0 1
IKZF4, LOC116268441, RPS26 1 0 0 0 0 0 0 1
INPP4A 0 1 0 0 0 0 0 1
INSL6, JAK2 1 1 0 0 0 0 0 1
LOC110806306 1 0 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 1
RPL18 1 0 0 0 0 0 0 1
RPL27 1 0 0 0 0 0 0 1
RPL35 1 0 0 0 0 0 0 1
RPS10 0 0 0 1 0 0 0 1
RPS15A 1 0 0 0 0 0 0 1
RPS27 1 0 0 0 0 0 0 1
RPS28 1 0 0 0 0 0 0 1
SRC 0 1 0 0 0 0 0 1
TGM1, TINF2 1 0 0 1 0 0 0 1
TP53, WRAP53 0 0 0 0 1 0 0 1
TSR2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 424 136 3082 245 50 1 0 3937
Illumina Clinical Services Laboratory,Illumina 3 4 688 430 116 0 0 1241
Counsyl 52 229 283 67 19 0 0 649
OMIM 281 0 1 0 0 1 0 283
Fulgent Genetics,Fulgent Genetics 65 8 194 1 3 0 0 271
Mendelics 16 19 133 54 16 0 0 237
GeneReviews 141 0 0 0 5 0 0 146
Genetic Services Laboratory, University of Chicago 23 15 0 0 0 0 0 38
Integrated Genetics/Laboratory Corporation of America 16 16 0 0 0 0 0 32
Baylor Genetics 21 7 2 0 0 0 0 30
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 24 0 0 0 0 28
Molecular Diagnostics Laboratory, M Health: University of Minnesota 12 14 0 0 0 0 0 26
UniProtKB/Swiss-Prot 0 0 0 0 0 0 22 22
Leiden Open Variation Database 18 0 3 0 0 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 3 5 0 0 12
Johns Hopkins Genomics,Johns Hopkins University 0 2 3 7 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 4 5 0 0 0 0 11
Degerman lab,Umeå University 8 2 1 0 0 0 0 11
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 5 0 0 0 0 0 10
NIHR Bioresource Rare Diseases, University of Cambridge 0 7 0 0 0 0 0 7
PALB2 database 4 0 2 0 0 0 0 6
University of Washington Center for Mendelian Genomics,University of Washington 6 0 0 0 0 0 0 6
Division of Human Genetics,Children's Hospital of Philadelphia 1 2 1 0 0 0 0 4
Department of Hematology,University of Health Sciences 0 2 0 2 0 0 0 4
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 2 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 0 0 1 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 0 3
Bone Marrow Failure laboratory,Queen Mary University London 3 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 0 0 3
Stem Cell Engineering Center,Hunan Guangxiu Hospital 3 0 0 0 0 0 0 3
Natera Inc 1 0 1 0 1 0 0 3
Medical Genetics Institute,Shaare Zedek Medical Center 2 0 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 0 2
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 0 0 0 0 0 0 2 2
Center for Individualized Medicine,Mayo Clinic 0 2 0 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 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 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 0 0 2 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 0 0 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 0 2 0 0 0 0 2
Department of Pediatrics,Hirosaki University Graduate School of Medicine 2 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 2
Bertuch Lab,Baylor College of Medicine 2 0 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
Research Group Niklas Dahl,Uppsala University 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies 0 0 0 0 0 0 1 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 0 1
Clinical Laboratory Sciences,Imam Abdulrahman Bin Faisal University 0 0 0 0 0 1 0 1

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