List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as uncertain significance for thalassemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.*96T>C	rs34029390	0.00283
NM_000518.5(HBB):c.324C>T (p.Gly108=)	rs193922562	0.00029
NM_000518.5(HBB):c.*132C>A	rs1420779550	0.00006
NM_000518.5(HBB):c.316-30A>C	rs193922558	0.00005
NM_000518.4(HBB):c.404T>C (p.Val135Ala)	rs33966761	0.00003
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)	rs33935383	0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)	rs33949486	0.00001
NM_000518.5(HBB):c.*18C>A	rs1348310843	0.00001
NM_000518.5(HBB):c.*53C>A	rs886048393	0.00001
NM_000518.5(HBB):c.*62A>G	rs1046868746	0.00001
NM_000518.4(HBB):c.371C>T (p.Thr124Ile)	rs33935383
NM_000518.4(HBB):c.422C>A (p.Ala141Asp)	rs33927093
NM_000518.5(HBB):c.*56A>T	rs537944366
NM_000518.5(HBB):c.*59A>G	rs1345009528
NM_000518.5(HBB):c.316-369G>A	rs1589891886
NM_000518.5(HBB):c.316-3C>T	rs33913413
NM_000518.5(HBB):c.385G>A (p.Ala129Thr)
NM_000518.5(HBB):c.387T>A (p.Ala129=)	rs1248780802
NM_000518.5(HBB):c.402G>C (p.Val134=)	rs113082294

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