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Gene: OCA2 & Disease: Albinism, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
373910	OCA2	c.1025A>G	p.Tyr342Cys (p.Y342C)	NM_000275.3 M	SNV	P	3 +	6
373910	OCA2	c.1025A>G	p.Tyr342Cys (p.Y342C)	NM_001300984.2	SNV	P	3 +	6
436090	OCA2	c.2339G>A	p.Gly780Asp (p.G780D)	NM_000275.3 M	SNV	P	4 +	4
436090	OCA2	c.2267G>A	p.Gly756Asp (p.G756D)	NM_001300984.2	SNV	P	4 +	4
438247	OCA2	c.646+1825_807+679del	--	NM_000275.3 M	Del	LP	1 +	0
438059	OCA2	c.1660T>C	p.Trp554Arg (p.W554R)	NM_000275.3 M	SNV	LP	1 +	0
438247	OCA2	c.646+1825_807+679del	--	NM_001300984.2	Del	LP	1 +	0
438059	OCA2	c.1588T>C	p.Trp530Arg (p.W530R)	NM_001300984.2	SNV	LP	1 +	0

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