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Mutation Direct

Effortless mutation search and display tool

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Gene: MMACHC & Disease: Benign Concentric Annular Macular Dystrophy, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1421	MMACHC	c.271dup	p.Arg91fs (p.R91fs)	NM_015506.3 M	Dup	P	5 +	25
	MMACHC	c.271dupA	--	NM_015506.3 M	Dup	P	5 +	25
	MMACHC	c.270_271insA	--	NM_015506.3 M	Dup	P	5 +	25
	MMACHC	c.100dup	p.Arg34fs (p.R34fs)	NM_001330540.2	Dup	P	5 +	25

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