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Gene: CFB & Disease: ARMD14, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
829990	CFB	c.1374G>A	p.Met458Ile (p.M458I)	NM_001710.6 M	SNV	P	4 +	6
16075	CFB	c.95G>A	p.Arg32Gln (p.R32Q)	NM_001710.6 M	SNV	LB	6 +	6
225313	CFB	c.1598A>G	p.Lys533Arg (p.K533R)	NM_001710.6 M	SNV	LB	6 +	3
16077	CFB	c.26T>A	p.Leu9His (p.L9H)	NM_001710.6 M	SNV	P	6 +	3
356284	CFB	c.1137C>T	p.Arg379= (p.R379=)	NM_001710.6 M	SNV	LB	7 +	2
16076	CFB	c.94C>T	p.Arg32Trp (p.R32W)	NM_001710.6 M	SNV	LB	7 +	1
1575611	CFB	c.1778+8C>T	--	NM_001710.6 M	SNV	LB	3 +	0
992561	CFB	c.658+7T>C	--	NM_001710.6 M	SNV	B	3 +	0
356267	CFB	c.-3G>A	--	NM_001710.6 M	SNV	VUS	4 +	0
356295	CFB	c.2100C>T	p.Gly700= (p.G700=)	NM_001710.6 M	SNV	LB	4 +	0

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