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Gene: TYR & Disease: Skin Disease, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
3777	TYR	c.1217C>T	p.Pro406Leu (p.P406L)	NM_000372.5 M	SNV	P	6 +	29
99527	TYR	c.1037-7T>A	--	NM_000372.5 M	SNV	P	8 +	18
617799	TYR	c.1037G>A	p.Gly346Glu (p.G346E)	NM_000372.5 M	SNV	P	4 +	8
3807	TYR	c.1A>G	p.Met1Val (p.M1V)	NM_000372.5 M	SNV	P	9 +	5
1180809	TYR	c.996G>A	p.Met332Ile (p.M332I)	NM_000372.5 M	SNV	P	2 +	4
99542	TYR	c.1204C>T	p.Arg402Ter (p.R402X)	NM_000372.5 M	SNV	P	2 +	3
3788	TYR	c.286dup	p.Met96fs (p.M96fs)	NM_000372.5 M	Dup	P	2 +	2
3788	TYR	c.286dupA	--	NM_000372.5 M	Dup	P	2 +	2

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