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Mutation Direct

Effortless mutation search and display tool

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Gene: CRX & Disease: Benign Concentric Annular Macular Dystrophy, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
218923	CRX	c.661del	p.Tyr221fs (p.Y221fs)	NM_000554.6 M	Del	P	4 +	3
218922	CRX	c.660del	p.Tyr221fs (p.Y221fs)	NM_000554.6 M	Del	P	4 +	2
218921	CRX	c.449C>G	p.Ser150Ter (p.S150X)	NM_000554.6 M	SNV	P	4 +	1

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