ClinVar Miner

List of variants reported as likely benign 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 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.402G>A (p.Val134=) rs113082294

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