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Mutation Direct

Effortless mutation search and display tool

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Gene: MYF5 & Disease: EORVA, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
523662	MYF5	c.283C>T	p.Arg95Cys (p.R95C)	NM_005593.3 M	SNV	P	2 +	2
523663	MYF5	c.23_32del	p.Gln8fs (p.Q8fs)	NM_005593.3 M	Del	P	2 +	1
1028918	MYF5	c.51C>G	p.Asp17Glu (p.D17E)	NM_005593.3 M	SNV	VUS	1 +	1

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