ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as pathogenic for 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

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003

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