List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.*110T>C	rs33978907	0.00005
NM_000518.5(HBB):c.316-106C>G	rs34690599	0.00003
NM_000518.4(HBB):c.332T>C (p.Leu111Pro)	rs35256489	0.00002
NM_000518.5(HBB):c.*111A>G	rs63751128	0.00001
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.5(HBB):c.316-1G>A	rs33952266
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	rs33946267
NM_000518.5(HBB):c.380T>G (p.Val127Gly)	rs33925391

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