ClinVar Miner

Variants in gene HBB

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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
29 0 0 0 1 17 43

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic benign other total
Beta-plus-thalassemia 12 0 0 12
beta^0^ Thalassemia 7 0 0 7
Erythrocytosis 6, familial 2 0 0 2
HBB/HBD anti-Lepore 2 0 0 2
beta Thalassemia 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
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 KORIYAMA 0 0 1 1
HEMOGLOBIN LINCOLN PARK 0 0 1 1
HEMOGLOBIN LITTLE ROCK 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
not provided 0 1 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic benign other total
OMIM 27 0 17 40
GeneReviews 2 0 0 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 1 0 1

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