ClinVar Miner

List of variants reported as likely pathogenic for beta-thalassemia and related diseases by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (17):

Beta thalassemia intermedia
Beta-thalassemia HBB/LCRB
Beta-thalassemia major
Beta-thalassemia-X-linked thrombocytopenia syndrome
Delta-beta-thalassemia
Dominant beta-thalassemia
Dominant beta-thalassemia; Beta-thalassemia HBB/LCRB
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; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB
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
Down syndrome; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Beta-thalassemia-X-linked thrombocytopenia syndrome; X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Hemoglobin E/beta thalassemia disease
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Transient myeloproliferative syndrome; Beta-thalassemia-X-linked thrombocytopenia syndrome; X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
beta Thalassemia

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.*111A>G	rs63751128	0.00001
NM_000518.5(HBB):c.-122T>A	rs1272414751	0.00001
NM_000518.4(HBB):c.269G>A (p.Ser90Asn)	rs33917628

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