ClinVar Miner

List of variants reported as likely pathogenic for Heinz body anemia by Fulgent Genetics, Fulgent Genetics

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-globin type; Erythrocytosis, familial, 6
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; Methemoglobinemia, beta-globin 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-globin 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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00064
NM_000517.6(HBA2):c.301-1G>A	rs587776827
NM_000518.5(HBB):c.-138C>A	rs33944208
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)	rs33961459
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)	rs63749948

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