ClinVar Miner

List of variants studied for alpha thalassemia spectrum by Juno Genomics, Hangzhou Juno Genomics, Inc

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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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000517.6(HBA2):c.369C>G (p.His123Gln)	rs41479347	0.00013
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)	rs41464951	0.00006
NM_000517.6(HBA2):c.394T>C (p.Ser132Pro)

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