List of variants reported as uncertain significance 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.-100G>A	rs281864524	0.00003
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)	rs33935383	0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro)	rs33935445	0.00001
NM_000518.5(HBB):c.*62A>G	rs1046868746	0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser)	rs33918778	0.00001
NM_000518.5(HBB):c.169G>A (p.Gly57Ser)	rs33935983	0.00001
NM_000518.4(HBB):c.68A>T (p.Glu23Val)	rs33936254
NM_000518.5(HBB):c.316-3C>T	rs33913413

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.