List of variants reported as pathogenic for 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 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.75T>A (p.Gly25=)	rs33951465	0.00006
NM_000518.5(HBB):c.316-2A>G	rs33914668	0.00003
NM_000518.5(HBB):c.92+2T>C	rs33956879	0.00001
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	rs33946267
NM_000518.5(HBB):c.-137C>G	rs33941377
NM_000518.5(HBB):c.184A>T (p.Lys62Ter)	rs33995148
NM_000518.5(HBB):c.203_204del (p.Val68fs)	rs34282684
NM_000518.5(HBB):c.316-3C>A	rs33913413

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