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Mutation Direct

Effortless mutation search and display tool

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Gene: SDHA & Disease: OMS, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
371805	SDHA	c.1534C>T	p.Arg512Ter (p.R512X)	NM_004168.4 M	SNV	P	6 +	12
	SDHA	c.1390C>T	p.Arg464Ter (p.R464X)	NM_001294332.2	SNV	P	6 +	12
	SDHA	c.1534C>T	p.Arg512Ter (p.R512X)	NM_001330758.2	SNV	P	6 +	12

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