ClinVar Miner

List of variants in gene HBA1, LOC106804613 studied for Heinz body anemia

Included ClinVar conditions (7):

Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; beta Thalassemia
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; Malaria, susceptibility to; 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
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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000558.5(HBA1):c.96-1G>A	rs34883113	0.00017
NM_000558.5(HBA1):c.237del (p.Asn79fs)	rs767911847	0.00009
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	rs63750751	0.00004
NM_000558.5(HBA1):c.328del (p.Leu110fs)	rs281864535
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)	rs63749948
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg)	rs34635364
NM_000558.5(HBA1):c.94_95del (p.Arg32fs)	rs1596573477

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