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Gene: PDE6B & Disease: OCA2, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
620164	PDE6B	c.2395C>T	p.Arg799Ter (p.R799X)	NM_000283.4 M	SNV	P	3 +	4
	PDE6B	c.2395C>T	p.Arg799Ter (p.R799X)	NM_001145291.2	SNV	P	3 +	4
	PDE6B	c.1558C>T	p.Arg520Ter (p.R520X)	NM_001145292.2	SNV	P	3 +	4
	PDE6B	c.1558C>T	p.Arg520Ter (p.R520X)	NM_001350154.3	SNV	P	3 +	4
	PDE6B	c.1240C>T	p.Arg414Ter (p.R414X)	NM_001350155.3	SNV	P	3 +	4
	PDE6B	c.1558C>T	p.Arg520Ter (p.R520X)	NM_001379246.1	SNV	P	3 +	4
	PDE6B	c.1558C>T	p.Arg520Ter (p.R520X)	NM_001379247.1	SNV	P	3 +	4

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