List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as pathogenic for Dominant beta-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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.92+1G>A	rs33971440	0.00005
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00001
NM_000518.5(HBB):c.138del (p.Phe46fs)	rs35133315
NM_000518.5(HBB):c.17_18del (p.Pro6fs)	rs34889882
NM_000518.5(HBB):c.3G>A (p.Met1Ile)	rs33930702
NM_000518.5(HBB):c.92_94dup (p.Arg31dup)	rs35348864

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