ClinVar Miner

List of variants in gene combination HBA1, LOC106804613 reported as likely pathogenic 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000558.5(HBA1):c.237del (p.Asn79fs)	rs767911847	0.00009
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	rs63750751	0.00004
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro)	rs35993655	0.00001
NM_000558.5(HBA1):c.2T>A (p.Met1Lys)
NM_000558.5(HBA1):c.2del (p.Met1fs)	rs1298047912
NM_000558.5(HBA1):c.328del (p.Leu110fs)	rs281864535
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)	rs63749948
NM_000558.5(HBA1):c.60del (p.His21fs)
NM_000558.5(HBA1):c.95+2_95+6del	rs1181505507
NM_000558.5(HBA1):c.98T>G (p.Met33Arg)
NM_000558.5(HBA1):c.99G>A (p.Met33Ile)

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