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: 25

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.-79A>G	rs34598529	0.00091
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	rs11549407	0.00026
NM_000518.5(HBB):c.75T>A (p.Gly25=)	rs33951465	0.00006
NM_000518.5(HBB):c.92+1G>A	rs33971440	0.00005
NM_000518.5(HBB):c.-137C>A	rs33941377	0.00004
NM_000518.5(HBB):c.-151C>T	rs63751208	0.00003
NM_000518.5(HBB):c.315+1G>A	rs33945777	0.00003
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.51del (p.Lys18fs)	rs35662066	0.00003
NM_000518.5(HBB):c.20del (p.Glu7fs)	rs63749819	0.00002
NM_000518.5(HBB):c.61G>A (p.Val21Met)	rs35890959	0.00001
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.-78A>C	rs33931746
NM_000518.5(HBB):c.112del (p.Trp38fs)	rs63750532
NM_000518.5(HBB):c.126_129del (p.Phe42fs)	rs80356821
NM_000518.5(HBB):c.135del (p.Phe46fs)	rs80356820
NM_000518.5(HBB):c.17_18del (p.Pro6fs)	rs34889882
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.27dup (p.Ser10fs)	rs35699606
NM_000518.5(HBB):c.316-3C>A	rs33913413
NM_000518.5(HBB):c.92+1G>T	rs33971440

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