List of variants reported as pathogenic for 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 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.20A>T (p.Glu7Val)	rs334	0.01288
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	rs33950507	0.00041
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00025
NM_000518.5(HBB):c.93-21G>A	rs35004220	0.00010
NM_000518.5(HBB):c.92+6T>C	rs35724775	0.00007
NM_000518.5(HBB):c.-137C>A	rs33941377	0.00004
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	rs33986703	0.00002

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