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Mutation Direct

Effortless mutation search and display tool

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Gene: CNGB3 & Disease: EOSRD, 102 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
143154	CNGB3	c.1208G>A	p.Arg403Gln (p.R403Q)	NM_019098.5 M	SNV	P	8 +	9
5227	CNGB3	c.1405T>G	p.Tyr469Asp (p.Y469D)	NM_019098.5 M	SNV	LP	4 +	7
427671	CNGB3	c.467C>T	p.Ser156Phe (p.S156F)	NM_019098.5 M	SNV	P	4 +	5
188780	CNGB3	c.644-1G>C	--	NM_019098.5 M	SNV	P	6 +	4
624336	CNGB3	c.2158CAAAAAGAAAATGAAGATAAA[1]	p.720QKENEDK[1]	NM_019098.5 M	MS	LP	4 +	2
624336	CNGB3	c.2179_2199del21	--	NM_019098.5 M	MS	LP	4 +	2
756110	CNGB3	c.2159A>G	p.Gln720Arg (p.Q720R)	NM_019098.5 M	SNV	LB	4 +	1
592343	CNGB3	c.1898A>G	p.Asp633Gly (p.D633G)	NM_019098.5 M	SNV	LB	3 +	1
261083	CNGB3	c.1397T>C	p.Met466Thr (p.M466T)	NM_019098.5 M	SNV	B	4 +	1
261088	CNGB3	c.354G>T	p.Pro118= (p.P118=)	NM_019098.5 M	SNV	LB	4 +	1
166898	CNGB3	c.2415A>C	p.Glu805Asp (p.E805D)	NM_019098.5 M	SNV	LB	4 +	1
731045	CNGB3	c.319G>A	p.Gly107Arg (p.G107R)	NM_019098.5 M	SNV	LB	4 +	1
790610	CNGB3	c.1626C>T	p.Ser542= (p.S542=)	NM_019098.5 M	SNV	LB	4 +	0
909441	CNGB3	c.*1143T>C	--	NM_019098.5 M	SNV	VUS	3 +	0
909440	CNGB3	c.*1218C>T	--	NM_019098.5 M	SNV	VUS	3 +	0
911536	CNGB3	c.*1476T>A	--	NM_019098.5 M	SNV	VUS	3 +	0
291003	CNGB3	c.1510A>G	p.Thr504Ala (p.T504A)	NM_019098.5 M	SNV	B	4 +	0
909502	CNGB3	c.*435G>A	--	NM_019098.5 M	SNV	VUS	3 +	0
100588	CNGB3	c.80A>G	p.Asn27Ser (p.N27S)	NM_019098.5 M	SNV	LB	4 +	0
911602	CNGB3	c.*737T>C	--	NM_019098.5 M	SNV	VUS	3 +	0

102 Results, 20 per Page

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