ClinVar Miner

List of variants in gene combination HBA2, LOC106804612 reported as not provided for thalassemia

Included ClinVar conditions (15):

Beta thalassemia intermedia
Beta-thalassemia HBB/LCRB
Beta-thalassemia major
Dominant beta-thalassemia
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Hb SS disease; beta Thalassemia
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; 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
Thalassemia
alpha Thalassemia
beta Thalassemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000517.6(HBA2):c.*94A>G	rs63751269
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys)	rs111033601
NM_000517.6(HBA2):c.2T>C (p.Met1Thr)	rs111033603
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	rs41397847
NM_000517.6(HBA2):c.94_95del (p.Arg32fs)	rs1057519637
NM_000517.6(HBA2):c.95+2_95+6del	rs41474145

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