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Mutation Direct

Effortless mutation search and display tool

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Gene: FBN2 & Disease: MFS, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
375300	FBN2	c.2945G>T	p.Cys982Phe (p.C982F)	NM_001999.4 M	SNV	LP	2 +	1
222630	FBN2	c.7771A>G	p.Thr2591Ala (p.T2591A)	NM_001999.4 M	SNV	VUS	1 +	0

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