List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as likely pathogenic for beta-thalassemia HBB/LCRB

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.341T>A (p.Val114Glu)	rs34484056	0.00001
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.4(HBB):c.365A>T (p.Glu122Val)	rs33987957
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	rs36015961
NM_000518.5(HBB):c.380T>A (p.Val127Glu)	rs33925391
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)	rs33999427

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