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Gene: CEP290 & Disease: Kidney Disease, 20 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
56739	CEP290	c.5493delA	--	NM_025114.4 M	Del	P	12 +	11
56739	CEP290	c.5493del	p.Ala1832fs (p.A1832fs)	NM_025114.4 M	Del	P	12 +	11
497937	CEP290	c.6798G>A	p.Trp2266Ter (p.W2266X)	NM_025114.4 M	SNV	P	10 +	8
374210	CEP290	c.3104-2A>G	--	NM_025114.4 M	SNV	P	3 +	5
126251	CEP290	c.251-10A>T	--	NM_025114.4 M	SNV	LB	10 +	3
966726	CEP290	c.1448C>T	p.Thr483Ile (p.T483I)	NM_025114.4 M	SNV	VUS	6 +	2
697728	CEP290	c.2638G>T	p.Ala880Ser (p.A880S)	NM_025114.4 M	SNV	LB	11 +	2
100594	CEP290	c.2827A>G	p.Ile943Val (p.I943V)	NM_025114.4 M	SNV	LB	10 +	2
281250	CEP290	c.1092T>G	p.Ile364Met (p.I364M)	NM_025114.4 M	SNV	LB	14 +	2
126258	CEP290	c.4119A>G	p.Lys1373= (p.K1373=)	NM_025114.4 M	SNV	LB	11 +	2
126262	CEP290	c.5237G>A	p.Arg1746Gln (p.R1746Q)	NM_025114.4 M	SNV	LB	11 +	2
699782	CEP290	c.4695A>G	p.Lys1565= (p.K1565=)	NM_025114.4 M	SNV	LB	5 +	2
594796	CEP290	c.7075A>C	p.Ile2359Leu (p.I2359L)	NM_025114.4 M	SNV	VUS	6 +	2
136727	CEP290	c.1624-5T>C	--	NM_025114.4 M	SNV	LB	11 +	2
136729	CEP290	c.3465G>A	p.Leu1155= (p.L1155=)	NM_025114.4 M	SNV	LB	11 +	2
136730	CEP290	c.5199A>G	p.Gln1733= (p.Q1733=)	NM_025114.4 M	SNV	LB	11 +	2
310603	CEP290	c.4087C>T	p.Arg1363Trp (p.R1363W)	NM_025114.4 M	SNV	B	11 +	2
310629	CEP290	c.442-22dup	--	NM_025114.4 M	Dup	LB	8 +	2
310629	CEP290	c.442-11dup	--	NM_025114.4 M	Dup	LB	8 +	2
100592	CEP290	c.1991A>G	p.Asp664Gly (p.D664G)	NM_025114.4 M	SNV	LB	11 +	1

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