C0271990[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 15068	NM_000519.3(HBD):c.*199G>A	HBD	Single nucleotide variant	delta Thalassemia	GPathogenic
Select item 15073	NM_000519.4(HBD):c.316-2A>G	HBD	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 15084	NM_000519.4(HBD):c.315+6T>A	HBD, LOC106099063	Single nucleotide variant (intron variant)	delta Thalassemia	GPathogenic
Select item 15074	NM_000519.4(HBD):c.226C>G (p.Leu76Val)	HBD, LOC106099063 (L76V)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) GROVETOWN +1 more	GPathogenic; other
Select item 15071	NM_000519.4(HBD):c.92G>C (p.Arg31Thr)	HBD, LOC106099063 (R31T)	Single nucleotide variant (missense variant)	delta Thalassemia	GPathogenic
Select item 15070	NM_000519.4(HBD):c.82G>T (p.Ala28Ser)	LOC106099063, HBD (A28S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 15085	NM_000519.3(HBD):c.-126A>T	HBD, LOC109951029	Single nucleotide variant	delta Thalassemia	GPathogenic
Select item 15072	NM_000519.3(HBD):c.-127T>C	HBD, LOC109951029	Single nucleotide variant	delta Thalassemia	GPathogenic

ClinVar