ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.316-3C>T rs33913413

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