ClinVar Miner

List of variants reported as pathogenic for alpha thalassemia spectrum by 3billion

Included ClinVar conditions (8):

Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; METHEMOGLOBINEMIA, BETA 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 TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Erythrocytosis, familial, 7
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Methemoglobinemia, alpha type; Erythrocytosis, familial, 7
Hemoglobin H disease
alpha Thalassemia

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)	rs41417548	0.00002
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	rs41464951
NM_000517.6(HBA2):c.95+2_95+6del	rs41474145

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