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Gene: CFD & Disease: CFDD, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16564	CFD	c.125C>A	p.Ser42Ter (p.S42X)	NM_001928.4 M	SNV	P	1 +	1
625914	CFD	c.463A>G	p.Ile155Val (p.I155V)	NM_001928.4 M	SNV	VUS	1 +	1
16564	CFD	c.146C>A	p.Ser49Ter (p.S49X)	NM_001317335.2	SNV	P	1 +	1
625914	CFD	c.484A>G	p.Ile162Val (p.I162V)	NM_001317335.2	SNV	VUS	1 +	1

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