ClinVar Miner

List of variants in gene HBB, LOC107133510, LOC110006319 studied for 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

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.5(HBB):c.316-30A>C rs193922558 0.00005
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391 0.00001
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.365A>T (p.Glu122Val) rs33987957
NM_000518.5(HBB):c.*129T>A rs528009939
NM_000518.5(HBB):c.*129T>C
NM_000518.5(HBB):c.*15T>C
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.373C>T (p.Pro125Ser) rs35461710
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.388G>A (p.Ala130Thr)
NM_000518.5(HBB):c.400G>T (p.Val134Leu)
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn) rs33949869

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