ClinVar Miner

Variants studied for alpha thalassemia

Included ClinVar conditions (2):
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
59 7 8 2 15 1 90

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HBA2, LOC106804612 19 4 3 1 8 1 34
HBA1, LOC106804613 8 2 5 1 6 0 22
HBB, LOC106099062, LOC107133510 8 1 0 0 0 0 9
HBA1, HBA2, HBQ1, LOC106804612, LOC106804613 5 0 0 0 0 0 5
HBA1, HBA2, HBZ 4 0 0 0 0 0 4
HBA1, HBA2, LOC106804612, LOC106804613 4 0 0 0 0 0 4
HBA1, HBA2 3 0 0 0 0 0 3
HBA2 1 0 0 0 1 0 2
HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613 1 0 0 0 0 0 1
HBA1 1 0 0 0 0 0 1
HBA1, HBA2, HBM, HBQ1 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
HBB, LOC107133510, LOC110006319 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 21 0 0 0 9 0 30
Natera, Inc. 3 5 8 2 6 0 24
GeneReviews 15 0 0 0 0 0 15
Fulgent Genetics,Fulgent Genetics 10 1 0 0 0 0 11
OMIM 5 0 0 0 0 0 5
Counsyl 3 0 0 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
Baylor Genetics 2 0 0 0 0 0 2
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 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
Myriad Women's Health, Inc. 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

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