ClinVar Miner

List of variants studied for beta thalassemia by Institute of Human Genetics, Heidelberg University

Included ClinVar conditions (12):

Beta thalassemia intermedia
Beta-thalassemia HBB/LCRB
Beta-thalassemia major
Dominant beta-thalassemia
Dominant beta-thalassemia; Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Hb SS disease; beta Thalassemia
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; beta Thalassemia
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB
beta Thalassemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.93-21G>A	rs35004220	0.00009
NM_000518.5(HBB):c.92+1G>A	rs33971440	0.00005
NM_000518.5(HBB):c.315+1G>A	rs33945777	0.00003

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