C0472767[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 15483	NM_000518.5(HBB):c.380T>G (p.Val127Gly)	HBB, LOC107133510 +1 more (V127G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 15451	NM_000518.5(HBB):c.316-3C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 36341	NM_000518.5(HBB):c.93-3T>G	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Beta thalassemia intermedia +1 more	GPathogenic/Likely pathogenic
Select item 15466	NM_000518.5(HBB):c.-81A>G	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +1 more	GPathogenic
Select item 15464	NM_000518.5(HBB):c.-137C>G	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +11 more	GPathogenic/Likely pathogenic
Select item 15514	NM_000518.5(HBB):c.-140C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +3 more	GPathogenic/Likely pathogenic
Select item 15462	NM_000518.5(HBB):c.-142C>T	LOC107133510, HBB +1 more	Single nucleotide variant	not provided +1 more	GPathogenic

ClinVar