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Gene: NDUFS1 & Disease: MELAS, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
190449	NDUFS1	c.758T>G	p.Val253Gly (p.V253G)	NM_005006.7 M	SNV	LP	1 +	1
	NDUFS1	c.650T>G	p.Val217Gly (p.V217G)	NM_001199981.2	SNV	LP	1 +	1
	NDUFS1	c.425T>G	p.Val142Gly (p.V142G)	NM_001199982.2	SNV	LP	1 +	1
	NDUFS1	c.587T>G	p.Val196Gly (p.V196G)	NM_001199983.2	SNV	LP	1 +	1
	NDUFS1	c.800T>G	p.Val267Gly (p.V267G)	NM_001199984.2	SNV	LP	1 +	1

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