ClinVar Miner

Variants studied for alpha thalassemia

Included ClinVar conditions (6):
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
99 24 36 6 17 9 178

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HBA2, LOC106804612 30 11 13 2 9 6 62
HBA1, LOC106804613 14 10 12 1 6 1 41
HBB, LOC106099062, LOC107133510 27 3 6 2 1 0 39
HBB, LOC107133510, LOC110006319 4 0 4 1 0 0 9
HBA1, HBA2, HBQ1, LOC106804612, LOC106804613, LOC130058090, LOC130058091 5 0 0 0 0 0 5
HBA1, HBA2, LOC106804612, LOC106804613 4 0 0 0 0 0 4
HBA1, HBA2 3 0 0 0 0 0 3
HBA1, HBA2, HBZ 3 0 0 0 0 0 3
HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613, LOC130058090, LOC130058091 2 0 0 0 0 0 2
HBA1, HBA2, HBM, HBQ1 2 0 0 0 0 0 2
HBA1, HBA2, LOC106804612 1 0 1 0 0 1 2
HBA2 1 0 0 0 1 0 2
HBA1, HBA2, HBM, HBQ1, HBZ 1 0 0 0 0 0 1
HBA1, HBA2, HBM, HBZ, LOC106804612, LOC106804613 1 0 0 0 0 0 1
HBA1, HBA2, HBM, LOC106804612, LOC106804613 1 0 0 0 0 0 1
HBB, HBD, LOC106099062, LOC106099063, LOC107133510, LOC110006319 1 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 1
NPRL3 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 42 5 12 3 1 0 63
Natera, Inc. 17 5 20 3 9 0 54
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 21 0 0 0 9 0 30
GeneReviews 7 0 0 0 0 8 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 4 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 3 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 4 1 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
3billion 1 2 1 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Counsyl 3 0 0 0 0 0 3
Department of Medical Genomics, Royal Prince Alfred Hospital 2 0 1 0 0 0 3
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province 1 0 0 0 2 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 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 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Thalassemia Center, San Luigi University Hospital 0 1 0 0 0 0 1

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