List of variants in gene HBB, LOC107133510, LOC110006319 studied for Dominant beta-thalassemia

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.316-106C>G	rs34690599	0.00003
NM_000518.5(HBB):c.340del (p.Val114fs)
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	rs36015961
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	rs33946267
NM_000518.5(HBB):c.382C>T (p.Gln128Ter)
NM_000518.5(HBB):c.394_404del (p.Gln132fs)
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]

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