ClinVar Miner

List of variants reported as likely pathogenic 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: 1

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)	rs33961459

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