ClinVar Miner

List of variants in gene TYR reported as pathogenic for Temperature-sensitive oculocutaneous albinism type 1

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	rs1126809	0.18094
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln)	rs61754393	0.00001

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