ClinVar Miner

List of variants reported as likely pathogenic for beta-thalassemia HBB/LCRB

Included ClinVar conditions (4):

Beta-thalassemia HBB/LCRB
Beta-thalassemia major
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; Methemoglobinemia, beta-globin 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-globin type; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000518.4(HBB):c.266T>C (p.Leu89Pro)	rs33940204
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)	rs33961459
NM_000518.5(HBB):c.233_234del (p.His78fs)	rs2133588176
NM_000518.5(HBB):c.279C>G (p.His93Gln)
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)	rs33999427

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