ClinVar Miner

Variants studied for acquired aplastic anemia

Included ClinVar conditions (27):
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
162 291 406 43 47 3 15 903

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
NBN 33 143 225 7 2 0 1 399
TERT 16 22 96 25 37 0 13 168
PRF1 45 54 17 0 0 0 0 109
MPL 13 32 9 1 0 0 0 55
SBDS 12 18 6 0 0 0 0 34
PIGA 12 11 5 1 0 0 0 29
LOC110806306, TERC 19 2 3 2 0 0 0 25
IFNG 0 0 15 2 2 0 0 19
LOC126860438, NBN 1 5 9 1 0 0 0 16
PIGT 0 0 5 1 4 3 0 13
SH2B3 1 1 5 1 1 0 0 9
LOC110806263, TERT 2 0 5 1 0 0 0 8
INSL6, JAK2 1 1 2 1 1 0 0 5
CALR 2 0 1 0 0 0 0 3
TERC 3 0 0 0 0 0 0 3
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, LOC126862036, LOC126862037, LOC126862038, LOC129390666, LOC130056381, LOC130056382, LOC130056383, LOC130056384, LOC130056385, LOC130056386, LOC130056387, LOC130056388, LOC130056389, LOC130056390, LOC130056391, LOC130056392, LOC130056393, LOC130056394, LOC130056395, LOC130056396, LOC130056397, LOC132090293, LOC132090294, TCL1A, TUNAR 0 1 0 0 0 0 0 1
DDX41 0 0 1 0 0 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 0 1
FANCM 0 0 1 0 0 0 0 1
LOC110806306 1 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 0 1
SRC 0 1 0 0 0 0 0 1
TINF2 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Baylor Genetics 83 173 210 0 0 0 0 466
Fulgent Genetics, Fulgent Genetics 44 104 128 21 6 0 0 303
Illumina Laboratory Services, Illumina 0 0 59 20 38 0 0 90
OMIM 42 0 0 0 0 1 0 43
GeneReviews 13 0 0 0 0 0 12 25
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 10 2 0 0 0 16
Johns Hopkins Genomics, Johns Hopkins University 0 4 8 0 0 0 0 12
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center 0 11 0 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 5 1 0 0 0 10
Degerman lab, Umeå University 5 2 1 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 4 2 1 0 0 0 0 7
Pangenia Genomics, Pangenia Inc. 0 5 2 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 0 6
Mendelics 2 1 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 0 1 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 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 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 0 0 0 0 0 0 2 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 0 0 2 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Bone Marrow Failure laboratory, Queen Mary University London 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
INSERM UMR 1170, INSERM 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 0 0 1
Gastroenterology Department, Qilu Hospital of Shandong University 0 0 1 0 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 1
Epi-/Genome lab, Department of Hematology, Rigshospitalet 0 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 0 0 0 0 0 1

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