ClinVar Miner

Variants studied for deficiency anemia

Included ClinVar conditions (29):
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 not provided total
630 344 2624 3987 947 34 8175

Gene and significance breakdown #

Total genes and gene combinations: 52
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 60 69 654 434 155 3 1258
HCFC1 6 1 111 672 255 0 1032
MTR 57 28 199 574 66 0 912
MTRR 73 28 159 481 50 1 774
TCN2 44 7 201 310 41 2 576
CP 69 6 222 149 43 2 453
MMACHC 95 73 110 190 10 3 426
AMN 25 28 59 295 25 1 417
LMBRD1 28 22 110 235 24 2 407
MMADHC 39 27 60 169 17 7 299
ABCD4 18 10 116 112 33 0 279
FTCD 10 3 94 90 35 1 228
UMPS 3 1 117 20 49 0 189
CBLIF 7 5 58 44 12 3 120
SARM1, SLC46A1 3 0 72 9 23 4 108
SLC11A2 7 1 62 5 24 0 97
AMN, LOC130056554 5 5 13 62 1 0 84
SLC19A2 13 3 51 2 12 0 81
TF 4 3 35 10 16 0 67
LOC129930446, MMACHC 23 11 14 18 0 0 57
LOC121853040, TCN2 1 0 19 18 4 0 41
SLC46A1 7 1 19 4 2 4 34
TMPRSS6 14 5 7 0 9 0 31
HCFC1, LOC130068842 0 0 4 14 12 0 30
CP, HPS3 0 0 13 11 6 0 28
AMN, LOC130056553 1 1 2 16 2 0 20
CUBN, LOC126860871 1 2 5 7 3 0 17
LOC129932886, MTR 1 1 2 13 0 0 17
COL6A2, FTCD 0 0 4 10 3 0 16
CUBN, LOC129390143 0 0 8 4 2 0 13
LOC126806368, MMADHC 0 1 2 8 2 0 13
DHFR, MSH3 0 0 0 0 9 0 9
LOC129931894, SLC19A2 2 0 7 0 0 0 9
LOC130060550, SLC46A1 1 0 4 0 0 0 5
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 4
MMACHC, PRDX1 3 0 1 0 0 0 4
DHFR 2 0 1 0 0 0 3
LOC130060548, SARM1, SLC46A1 0 0 2 0 0 0 2
TSEN54 2 0 0 0 0 0 2
AMN, CDC42BPB, LOC130056553 1 1 0 0 0 1 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 1 0 0 0 0 0 1
CACNB2, CUBN, HACD1, SLC39A12, ST8SIA6, STAM, TRDMT1, VIM 0 0 1 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 1
COL19A1, COL9A1, LMBRD1 1 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
IL2RB, LOC130067341, TMPRSS6 1 0 0 0 0 0 1
LOC120893165, SLC19A2 0 0 1 0 0 0 1
LOC122152347, LOC129932886, MTR 1 0 0 0 0 0 1
LOC129993631, MTRR 0 0 0 0 1 0 1
PRDX1 0 0 0 0 1 0 1
STEAP3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 105
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 441 141 1747 3820 737 0 6886
Illumina Laboratory Services, Illumina 5 1 773 134 271 0 1184
Fulgent Genetics, Fulgent Genetics 36 24 215 94 8 0 377
Genome-Nilou Lab 32 24 47 20 91 0 214
Natera, Inc. 15 6 61 34 35 0 151
Baylor Genetics 67 45 37 0 0 0 149
OMIM 127 0 0 0 0 0 127
Revvity Omics, Revvity 18 15 67 1 0 0 101
Counsyl 20 23 30 1 0 0 74
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 42 17 0 0 0 0 59
GeneReviews 41 0 0 0 0 17 58
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 10 38 0 56
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 49
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 6 11 10 0 0 0 27
Mendelics 9 2 5 4 4 0 24
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 1 5 1 0 0 13
New York Genome Center 2 1 9 0 0 0 12
Pars Genome Lab 0 0 1 0 11 0 12
3billion 9 0 3 0 0 0 12
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 7 4 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 6 0 0 0 10
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 10 10
MGZ Medical Genetics Center 1 2 6 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 1 4 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 3 0 0 0 0 8
Elsea Laboratory, Baylor College of Medicine 4 0 4 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 1 4 1 0 0 8
Myriad Genetics, Inc. 1 6 1 0 0 0 8
Neurology Department, Peking University First Hospital 6 0 1 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 6 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 3 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 2 0 0 0 7
Dept of Medicine and Surgery, University of Milano-Bicocca 5 1 0 0 0 0 6
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 3 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 2 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 1 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 2 2 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 2 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
BloodGenetics 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
GenePathDx, GenePath diagnostics 0 1 0 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Hemoglobin and Genome Lab, University of Campinas 0 2 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Breda Genetics srl 0 1 1 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm 1 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Biochemistry Laboratory, Bechir Hamza Children's Hospital 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Department of Hematology, Children's Hospital Affiliated to Kunming Medical University 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.