List of variants in gene TYR reported as likely pathogenic for Oculocutaneous albinism type 1A; 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.325G>A (p.Gly109Arg)	rs61753253	0.00009
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)	rs61753184	0.00005
NM_000372.5(TYR):c.121G>A (p.Gly41Arg)	rs369291837	0.00003
NM_000372.5(TYR):c.1045_1046insAT (p.Ser349fs)	rs770218017	0.00001
NM_000372.5(TYR):c.1099C>T (p.His367Tyr)	rs776054795	0.00001
NM_000372.5(TYR):c.551C>G (p.Ser184Ter)	rs367543066	0.00001
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	rs773970123
NM_000372.5(TYR):c.1109T>A (p.Met370Lys)	rs61754385
NM_000372.5(TYR):c.635G>C (p.Arg212Thr)

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