C4551504[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3793	NM_000372.5(TYR):c.61C>T (p.Pro21Ser)	TYR (P21S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1066111	NM_000372.5(TYR):c.132T>A (p.Ser44Arg)	TYR (S44R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 99575	NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	TYR (R217Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99583	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	TYR (R278*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +6 more	GPathogenic
Select item 3771	NM_000372.5(TYR):c.929dup (p.Arg311fs)	TYR (R311fs)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	Tyrosinase-negative oculocutaneous albinism +10 more	GPathogenic/Likely pathogenic
Select item 1320271	NM_000372.5(TYR):c.1039T>C (p.Phe347Leu)	TYR (F347L)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GLikely pathogenic

ClinVar