List of variants in gene TYR reported as likely pathogenic for Oculocutaneous albinism type 1B

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	rs1042602	0.24046
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	rs1126809	0.17677
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	rs376823382	0.00023
NM_000372.5(TYR):c.823G>T (p.Val275Phe)	rs104894314	0.00019
NM_000372.5(TYR):c.97A>G (p.Lys33Glu)	rs1388451551	0.00001
NM_000372.5(TYR):c.308G>A (p.Cys103Tyr)
NM_000372.5(TYR):c.440C>G (p.Ser147Ter)	rs1288816930
NM_000372.5(TYR):c.[1205G>A;575C>A]

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