ClinVar Miner

Variants in gene HBB

See also:
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 other total
34 0 0 0 1 16 48

Condition and significance breakdown #

Total conditions: 34
Download table as spreadsheet
Condition pathogenic benign other total
Beta-plus-thalassemia 10 0 0 10
beta Thalassemia 7 0 0 7
beta^0^ Thalassemia 7 0 0 7
not provided 2 1 0 3
HBB/HBD anti-Lepore 2 0 0 2
Beta-thalassemia dominant 1 0 0 1
Beta-thalassemia, Ashkenazi Jewish type 1 0 0 1
Delta-beta thalassemia 1 0 0 1
Erythrocytosis 6, familial 1 0 0 1
Fetal hemoglobin quantitative trait locus 1 1 0 0 1
HEMOGLOBIN ALABAMA 0 0 1 1
HEMOGLOBIN CAMDEN 0 0 1 1
HEMOGLOBIN EDMONTON 0 0 1 1
HEMOGLOBIN FORT GORDON 0 0 1 1
HEMOGLOBIN HANA 1 0 0 1
HEMOGLOBIN KORIYAMA 0 0 1 1
HEMOGLOBIN LINCOLN PARK 0 0 1 1
HEMOGLOBIN MANHATTAN 0 0 1 1
HEMOGLOBIN MIYADA 0 0 1 1
HEMOGLOBIN MIZUNAMI 0 0 1 1
HEMOGLOBIN MONTREAL 0 0 1 1
HEMOGLOBIN MOTOWN 0 0 1 1
HEMOGLOBIN N (MEMPHIS) 0 0 1 1
HEMOGLOBIN N, BETA TYPE 0 0 1 1
HEMOGLOBIN NAGASAKI 0 0 1 1
HEMOGLOBIN NANCY 0 0 1 1
HEMOGLOBIN NIKOSIA 0 0 1 1
HEMOGLOBIN OSLER 0 0 1 1
HEMOGLOBIN P (CONGO) 0 0 1 1
HEMOGLOBIN P (NILOTIC) 0 0 1 1
HEMOGLOBIN RICHMOND 0 0 1 1
HEMOGLOBIN TOKUCHI 0 0 1 1
HEMOGLOBIN VAASA 0 0 1 1
Thalassemia intermedia 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
Download table as spreadsheet
Submitter pathogenic benign other total
OMIM 25 0 16 38
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 4 0 0 4
Invitae 2 0 0 2
GeneReviews 2 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 1 0 1
Integrated Genetics/Laboratory Corporation of America 1 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.