List of variants in gene TYR reported as likely pathogenic for Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B; Ocular albinism with congenital sensorineural hearing loss; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	rs61753180	0.00030
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	rs63159160	0.00029

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