List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as likely pathogenic for 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.316-7C>A	rs34483965	0.00003
NM_000518.5(HBB):c.*111A>G	rs63751128	0.00001
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.4(HBB):c.388G>C (p.Ala130Pro)	rs35939430
NM_000518.5(HBB):c.110_111del	rs63750205
NM_000518.5(HBB):c.*113A>G	rs33985472
NM_000518.5(HBB):c.316-14T>G	rs35703285
NM_000518.5(HBB):c.316-1G>A	rs33952266
NM_000518.5(HBB):c.316-1G>T	rs33952266
NM_000518.5(HBB):c.316-3C>A	rs33913413
NM_000518.5(HBB):c.316-7C>G	rs34483965
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)
NM_000518.5(HBB):c.328G>A (p.Val110Met)	rs33969677
NM_000518.5(HBB):c.380T>A (p.Val127Glu)	rs33925391
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)	rs33999427

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