ClinVar Miner

Variants studied for aplastic anemia

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
790 377 3235 1398 565 4 26 6027

Gene and significance breakdown #

Total genes and gene combinations: 96
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
BRIP1 99 62 750 256 24 0 0 1142
FANCA 81 103 219 91 34 0 0 487
TERT 40 9 215 182 35 0 2 453
RAD51C 51 30 276 78 8 0 0 430
SLX4 13 3 246 110 54 0 0 394
AOPEP, FANCC 11 37 135 52 13 0 0 233
FANCI 11 5 143 46 34 0 0 219
RTEL1, RTEL1-TNFRSF6B 18 35 94 30 35 0 0 205
BRCA2 37 0 62 77 17 0 1 193
FANCM 0 0 125 38 32 1 0 175
FANCC 22 25 76 22 5 0 0 135
FANCD2, LOC107303338 8 3 52 34 30 0 0 111
FANCA, ZNF276 6 19 55 27 9 0 0 108
CTC1 8 1 51 23 21 0 0 104
FANCG 15 3 58 21 7 0 0 103
FANCE 3 0 71 18 13 0 0 99
FANCF 5 2 64 19 16 0 0 97
MPL 16 4 35 35 11 0 0 89
PALB2 15 0 31 23 3 0 1 73
DKC1 46 4 13 5 4 0 22 70
TINF2 25 1 23 19 11 0 0 70
FANCB 7 1 30 7 23 0 0 68
ERCC4 7 1 27 18 13 0 0 65
TERC 29 2 31 0 1 0 0 61
SRP72 2 0 19 20 14 0 0 55
BRCA1 28 0 20 0 2 0 0 50
FANCD2, FANCD2OS 1 0 30 5 9 0 0 44
FANCL 7 2 19 11 4 0 0 42
RPS19 13 2 12 11 4 0 0 40
FANCL, VRK2 4 4 19 7 5 0 0 34
PARN 10 0 8 6 6 0 0 30
DIPK1A, RPL5 11 2 8 9 4 0 0 29
ACD 2 0 14 3 9 0 0 28
RPL11 9 1 7 8 3 0 0 26
RPS10, RPS10-NUDT3 2 0 6 15 6 0 0 26
FANCI, POLG 1 0 13 6 5 0 0 25
LOC110806263, TERT 3 0 14 7 1 0 0 25
NBN 3 1 19 0 0 0 0 23
RPS7 2 0 10 8 3 0 0 23
FANCA, LOC112486223 6 7 8 3 2 0 0 22
RPS24 6 0 4 10 3 0 0 22
RPS26 8 1 4 4 3 0 0 20
RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 19 0 0 0 0 19
SBDS 12 0 5 1 4 0 0 19
RPL5 4 0 8 6 1 0 0 18
LOC110806306, TERC 10 0 8 0 1 0 0 17
DCLRE1B 0 0 12 2 2 0 0 16
IQCG, RPL35A 6 0 4 6 1 0 0 16
GATA1 3 1 7 0 4 0 0 15
IFNG 0 0 10 2 0 0 0 12
NHP2 1 0 6 2 2 0 0 11
PIGA 10 0 1 0 0 0 0 11
FANCD2 3 1 4 2 0 0 0 10
WRAP53 4 0 4 2 0 0 0 10
NHP2, RMND5B 4 0 2 1 2 0 0 9
BRIP1, LOC110120932 1 1 4 0 0 0 0 6
FANCG, VCP 0 0 1 2 6 0 0 6
NOP10 1 0 2 1 2 0 0 6
PIGT 0 0 3 0 0 3 0 6
BRCA2, LOC106721785 0 0 1 2 1 0 0 4
CTC1, PFAS 0 0 3 1 0 0 0 4
EFL1 2 0 3 0 0 0 0 4
POLR3A, RPS24 0 0 0 3 1 0 0 4
RPL26 1 0 2 0 1 0 0 4
RPS17 4 0 0 0 0 0 0 4
SRP54 3 0 0 0 0 0 0 3
XRCC2 0 0 3 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
ERCC6L2 2 0 0 0 0 0 0 2
LOC110806263, LOC110806264, TERT 0 0 2 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
RPL15 1 0 1 0 0 0 0 2
RPS10 1 0 0 1 0 0 0 2
RPS29 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, 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
IKZF4, 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
RPL27 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
TSR2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 299 100 2293 923 447 1 0 4063
Illumina Clinical Services Laboratory,Illumina 4 4 688 430 116 0 0 1242
Counsyl 52 222 280 67 19 0 0 639
OMIM 284 0 1 0 0 1 0 286
Fulgent Genetics 65 8 194 1 3 0 0 271
GeneReviews 150 0 0 0 9 0 0 159
Mendelics 7 6 75 3 0 0 0 91
Genetic Services Laboratory, University of Chicago 25 15 0 0 0 0 0 40
Integrated Genetics/Laboratory Corporation of America 16 16 0 0 0 0 0 32
Molecular Diagnostics Laboratory,M Health: University of Minnesota 12 12 0 0 0 0 0 24
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 19 0 0 0 0 23
UniProtKB/Swiss-Prot 0 0 0 0 0 0 22 22
Degerman lab,Umeå University 8 2 1 0 0 0 0 11
PALB2 database 8 0 2 0 0 0 0 10
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 4 3 0 0 0 0 8
SIB Swiss Institute of Bioinformatics 0 0 6 0 1 0 0 7
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 6 0 0 0 7
Baylor Miraca Genetics Laboratories, 2 2 2 0 0 0 0 6
University of Washington Center for Mendelian Genomics,University of Washington 6 0 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 3 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 0 0 0 0 0 4
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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 3 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 1 0 0 3
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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 2 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 0 0 3
Undiagnosed Diseases Network,NIH 0 1 2 0 0 0 0 3
Molecular ImmunoRheumatology UMRS_1109,Institut national de la santé et de la recherche médicale 3 0 0 0 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 1 1 0 0 3
Stem Cell Engineering Center,Hunan Guangxiu Hospital 3 0 0 0 0 0 0 3
Medical Genetics Institute,Shaare Zedek Medical Center 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
Foundation for Research in Genetics and Endocrinology,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
Donald Williams Parsons Laboratory,Baylor College of Medicine 2 0 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 0 0 2
Department of Pediatrics,Hirosaki University Graduate School of Medicine 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 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
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 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
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
University of Washington Department of Laboratory Medicine,University of Washington 1 0 0 0 0 0 0 1

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