ClinVar Miner

Variants studied for thalassemia

Included ClinVar conditions (15):
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
357 87 95 31 43 1 54 549

Gene and significance breakdown #

Total genes and gene combinations: 27
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
HBB, LOC106099062, LOC107133510 206 44 45 16 11 0 34 282
HBB, LOC107133510, LOC110006319 60 15 19 12 16 0 9 105
HBA2, LOC106804612 34 14 15 2 9 0 6 69
HBA1, LOC106804613 14 11 13 1 6 0 1 43
HBB, LOC106099062, LOC107133510, LOC110006319 15 3 1 0 0 0 1 16
HBA1, HBA2, HBQ1, LOC106804612, LOC106804613, LOC130058090, LOC130058091 5 0 0 0 0 0 0 5
HBA1, HBA2, LOC106804612, LOC106804613 4 0 0 0 0 0 0 4
HBB 4 0 0 0 0 0 0 4
HBA1, HBA2 3 0 0 0 0 0 0 3
HBA1, HBA2, HBZ 3 0 0 0 0 0 0 3
HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613, LOC130058090, LOC130058091 2 0 0 0 0 0 0 2
HBA1, HBA2, HBM, HBQ1 2 0 0 0 0 0 0 2
HBA1, HBA2, LOC106804612 1 0 1 0 0 0 1 2
HBA2 1 0 0 0 1 0 0 2
A-GAMMA3'E, BGLT3, HBB, HBB-LCR, HBD, HBE1, HBG1, HBG2, HS-E1, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC107133510, LOC109951029, LOC110006319, OR51B4 1 0 0 0 0 0 0 1
A-GAMMA3'E, BGLT3, HBB, HBD, HBG1, LOC106099062, LOC106099063, LOC106099064, LOC107133510, LOC109951029, LOC110006319 1 0 0 0 0 0 0 1
A-GAMMA3'E, BGLT3, HBE1, HBG1, HBG2, HS-E1, LOC106099064, LOC106099065, LOC109951029 1 0 0 0 0 0 0 1
HBA1, HBA2, HBM, HBQ1, HBZ 1 0 0 0 0 0 0 1
HBA1, HBA2, HBM, HBZ, LOC106804612, LOC106804613 1 0 0 0 0 0 0 1
HBA1, HBA2, HBM, LOC106804612, LOC106804613 1 0 0 0 0 0 0 1
HBB, HBB-LCR 1 0 0 0 0 0 0 1
HBB, HBD, LOC106099062, LOC106099063, LOC107133510, LOC109951029, LOC110006319 1 0 0 0 0 0 0 1
HBB, HBD, LOC106099062, LOC106099063, LOC107133510, LOC110006319 1 0 0 0 0 0 0 1
HBD 0 0 1 0 0 0 0 1
LOC106099062, LOC107133510 0 0 0 0 0 0 1 1
LOC107133510, LOC110006319 0 0 0 0 0 1 0 1
NPRL3 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 70
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 262 0 0 0 26 0 0 288
Natera, Inc. 93 9 55 14 17 0 0 188
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 100 22 4 5 1 0 0 132
Fulgent Genetics, Fulgent Genetics 42 5 12 3 1 0 0 63
GeneReviews 7 0 0 0 0 0 50 57
Counsyl 21 21 1 1 0 0 0 44
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 25 5 0 0 0 0 0 30
Myriad Genetics, Inc. 22 6 0 0 0 0 0 28
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 8 3 1 7 0 0 0 19
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 19 0 0 0 0 0 0 19
Genetics and Molecular Pathology, SA Pathology 13 4 1 0 0 0 0 18
Illumina Laboratory Services, Illumina 1 1 14 0 1 0 0 17
Genome-Nilou Lab 11 0 1 0 5 0 0 17
3billion 10 5 0 0 0 0 0 15
MGZ Medical Genetics Center 13 0 1 0 0 0 0 14
OMIM 13 0 0 0 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 10 3 0 0 0 0 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 0 0 0 0 0 0 12
Mendelics 4 0 0 1 6 0 0 11
Baylor Genetics 7 0 3 0 0 0 0 10
MVZ Dr. Eberhard & Partner Dortmund 0 0 8 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 7 0 0 0 0 0 0 7
Centogene AG - the Rare Disease Company 5 1 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 5 0 1 0 0 0 0 6
Department of Medical Genomics, Royal Prince Alfred Hospital 3 0 2 1 0 0 0 6
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province 2 0 0 0 4 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 4 1 0 0 0 0 0 5
College of Science, Al Muthanna University, Al Muthanna University 1 0 0 0 4 0 0 5
Lifecell International Pvt. Ltd 5 0 0 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 1 1 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 0 2
Suma Genomics, Suma Genomics 2 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Pediatric Molecular Hematology, Schneider Children's Medical Center of Israel 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 1
Medical Biology Lab, Gaziantep University 0 0 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 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 0 1
Bodamer Research Lab, Boston Children's Hospital 0 0 1 0 0 0 0 1
Hb Lab, Kinderklinik Ulm, University Hospital Ulm 1 0 0 0 0 0 0 1
Genetics Service Unit, BRIC-National Institute of Biomedical Genomics 1 0 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1
Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 1
Biochemical and Immune Lab of Obstetrics and Gynecology, The Third Affiliated Hospital of Guangzhou Medical University 0 0 0 0 0 1 0 1
Department of Pathology, Krishna Institute of Medical Sciences “Deemed To Be University”, Karad 1 0 0 0 0 0 0 1
Genetic Laboratory, Salmaniya Medical Complex 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Thalassemia Center, San Luigi University Hospital 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 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.