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Gene: RAB5IF & Disease: CFSMR1, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
996015	RAB5IF	c.75G>A	p.Trp25Ter (p.W25X)	NM_018840.5 M	SNV	P	4 +	2
	RAB5IF	c.75G>A	p.Trp25Ter (p.W25X)	NM_001199534.2	SNV	P	4 +	2
	RAB5IF	c.75G>A	p.Trp25Ter (p.W25X)	NM_001374178.1	SNV	P	4 +	2
	RAB5IF	c.75G>A	p.Trp25Ter (p.W25X)	NM_199483.3	SNV	P	4 +	2

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