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Mutation Direct

Effortless mutation search and display tool

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Gene: RPE65 & Disease: GLOB, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
13115	RPE65	c.271C>T	p.Arg91Trp (p.R91W)	NM_000329.3 M	SNV	P	8 +	13
1180616	RPE65	c.938A>C	p.His313Pro (p.H313P)	NM_000329.3 M	SNV	LP	2 +	0

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