ClinVar Miner

List of variants studied for beta thalassemia by OMIM

Included ClinVar conditions (9):

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-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
beta Thalassemia

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	rs33960103
NM_000518.5(HBB):c.117_118del (p.Gln40fs)	rs267607291
NM_000518.5(HBB):c.143dup (p.Asp48fs)	rs35894115
NM_000518.5(HBB):c.340del (p.Val114fs)
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	rs33946267
NM_000518.5(HBB):c.394_404del (p.Gln132fs)
NM_000518.5(HBB):c.92_94dup (p.Arg31dup)	rs35348864
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]

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