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Mutation Direct

Effortless mutation search and display tool

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Gene: PDE6C & Disease: Cone Dystrophy, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2577524	PDE6C	c.1295C>T	p.Ser432Phe (p.S432F)	NM_006204.4 M	SNV	VUS	1 +	1
812373	PDE6C	c.490T>C	p.Phe164Leu (p.F164L)	NM_006204.4 M	SNV	LP	1 +	0

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