ClinVar Miner

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

Included ClinVar conditions (6):

Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; beta Thalassemia; Methemoglobinemia, beta-globin type; Erythrocytosis, familial, 6
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; Methemoglobinemia, beta-globin 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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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)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000558.5(HBA1):c.-24C>G	rs374054030	0.04854
NM_000558.5(HBA1):c.300+55G>T	rs148228241	0.01925
NM_000558.5(HBA1):c.95+39C>T	rs577938658	0.01700
NM_000558.5(HBA1):c.*46C>A	rs141514155	0.01440
NM_000558.5(HBA1):c.-42C>T	rs370305736	0.00968
NC_000016.10:g.176177_176301del	rs1902124319

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