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Gene: CFAP53 & Disease: HTX6, 60 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1057411	CFAP53	c.1213+4A>G	--	NM_145020.5 M	SNV	VUS	1 +	2
262550	CFAP53	c.115A>C	p.Arg39= (p.R39=)	NM_145020.5 M	SNV	LB	1 +	2
262551	CFAP53	c.305G>A	p.Arg102His (p.R102H)	NM_145020.5 M	SNV	LB	1 +	2
262553	CFAP53	c.474-18T>C	--	NM_145020.5 M	SNV	B	1 +	2
262554	CFAP53	c.57A>G	p.Lys19= (p.K19=)	NM_145020.5 M	SNV	LB	1 +	2
262555	CFAP53	c.615G>C	p.Trp205Cys (p.W205C)	NM_145020.5 M	SNV	B	1 +	2
262556	CFAP53	c.691C>T	p.Arg231Cys (p.R231C)	NM_145020.5 M	SNV	B	1 +	2
262557	CFAP53	c.778-12A>T	--	NM_145020.5 M	SNV	B	1 +	2
262558	CFAP53	c.789C>T	p.Asn263= (p.N263=)	NM_145020.5 M	SNV	B	1 +	2
262559	CFAP53	c.798T>A	p.Ile266= (p.I266=)	NM_145020.5 M	SNV	B	1 +	2
262560	CFAP53	c.880G>A	p.Glu294Lys (p.E294K)	NM_145020.5 M	SNV	B	1 +	2
262561	CFAP53	c.939C>T	p.Leu313= (p.L313=)	NM_145020.5 M	SNV	B	1 +	2
262562	CFAP53	c.945A>G	p.Gln315= (p.Q315=)	NM_145020.5 M	SNV	LB	1 +	2
2506009	CFAP53	c.1318C>T	p.Arg440Cys (p.R440C)	NM_145020.5 M	SNV	VUS	1 +	1
1953801	CFAP53	c.1513C>A	p.Arg505Ser (p.R505S)	NM_145020.5 M	SNV	VUS	1 +	1
1403920	CFAP53	c.121C>G	p.Arg41Gly (p.R41G)	NM_145020.5 M	SNV	VUS	1 +	1
2155044	CFAP53	c.146C>T	p.Ala49Val (p.A49V)	NM_145020.5 M	SNV	VUS	1 +	1
217132	CFAP53	c.472A>G	p.Arg158Gly (p.R158G)	NM_145020.5 M	SNV	P	2 +	1
1418796	CFAP53	c.772C>T	p.Leu258Phe (p.L258F)	NM_145020.5 M	SNV	VUS	1 +	1
1374764	CFAP53	c.1153G>T	p.Ala385Ser (p.A385S)	NM_145020.5 M	SNV	VUS	1 +	1

60 Results, 20 per Page

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