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Mutation Direct

Effortless mutation search and display tool

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Gene: COX6A1 & Disease: CMTRID, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1410560	COX6A1	c.160A>G	p.Met54Val (p.M54V)	NM_004373.4 M	SNV	VUS	1 +	2
156370	COX6A1	c.247-7_247-3del	--	NM_004373.4 M	Del	P	1 +	2

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