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Gene: MYO5A & Disease: Dystonia, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
242881	MYO5A	c.4200C>G	p.Ser1400Arg (p.S1400R)	NM_001382347.1 M	SNV	P	1 +	0
	MYO5A	c.4200C>G	p.Ser1400Arg (p.S1400R)	NM_000259.3	SNV	P	1 +	0
	MYO5A	c.4119C>G	p.Ser1373Arg (p.S1373R)	NM_001142495.2	SNV	P	1 +	0
	MYO5A	c.4272C>G	p.Ser1424Arg (p.S1424R)	NM_001382348.1	SNV	P	1 +	0
	MYO5A	c.4272C>G	p.Ser1424Arg (p.S1424R)	NM_001382349.1	SNV	P	1 +	0

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