List of variants in gene HBB, LOC107133510, LOC110006319 studied 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.*132C>A	rs1420779550	0.00006
NM_000518.5(HBB):c.316-106C>G	rs34690599	0.00003
NM_000518.5(HBB):c.316-2A>G	rs33914668	0.00003
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)	rs33935383	0.00001
NM_000518.5(HBB):c.*62A>G	rs1046868746	0.00001
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	rs33946267
NM_000518.5(HBB):c.316-3C>A	rs33913413
NM_000518.5(HBB):c.316-3C>T	rs33913413
NM_000518.5(HBB):c.402G>A (p.Val134=)	rs113082294

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