ClinVar Miner

List of variants in gene combination HBA1, LOC106804613 reported as pathogenic for alpha thalassemia

Included ClinVar conditions (2):

Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Susceptibility to malaria; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis 6, familial
alpha Thalassemia

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP
NM_000558.5(HBA1):c.207C>A (p.Asn69Lys)	rs1060339
NM_000558.5(HBA1):c.223G>C (p.Asp75His)	rs28928875
NM_000558.5(HBA1):c.43T>Y (p.Trp15Xaa)	rs33964317

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