"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC110006319"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36332	NM_000518.5(HBB):c.*110T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Hb SS disease +3 more	GPathogenic
Select item 1705956	NM_000518.5(HBB):c.389_401del (p.Ala130fs)	LOC107133510, LOC110006319 +1 more (A130fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 15404	NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	HBB, LOC107133510 +1 more (E122*)	Single nucleotide variant (nonsense)	Dominant beta-thalassemia +2 more	GPathogenic
Select item 15526	NM_000518.5(HBB):c.347C>A (p.Ala116Asp)	HBB, LOC107133510 +1 more (A116D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 15513	NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	HBB, LOC107133510 +1 more (L115P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 36313	NM_000518.5(HBB):c.316-14T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 15457	NM_000518.5(HBB):c.316-106C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +10 more	GPathogenic/Likely pathogenic

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