Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: CLCN1 & Disease: EMF, 762 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
17545	CLCN1	c.2680C>T	p.Arg894Ter (p.R894X)	NM_000083.3 M	SNV	P	6 +	43
209138	CLCN1	c.501C>G	p.Phe167Leu (p.F167L)	NM_000083.3 M	SNV	P	5 +	40
17532	CLCN1	c.689G>A	p.Gly230Glu (p.G230E)	NM_000083.3 M	SNV	P	4 +	27
17531	CLCN1	c.1238T>G	p.Phe413Cys (p.F413C)	NM_000083.3 M	SNV	P	3 +	22
21052	CLCN1	c.937G>A	p.Ala313Thr (p.A313T)	NM_000083.3 M	SNV	P	3 +	20
639252	CLCN1	c.313C>T	p.Arg105Cys (p.R105C)	NM_000083.3 M	SNV	LP	4 +	19
21040	CLCN1	c.1592C>T	p.Ala531Val (p.A531V)	NM_000083.3 M	SNV	P	4 +	18
289967	CLCN1	c.180+3A>T	--	NM_000083.3 M	SNV	P	3 +	17
209139	CLCN1	c.568_569delinsTC	p.Gly190Ser (p.G190S)	NM_000083.3 M	Indel	P	5 +	15
21051	CLCN1	c.929C>T	p.Thr310Met (p.T310M)	NM_000083.3 M	SNV	P	4 +	15
280100	CLCN1	c.854G>A	p.Gly285Glu (p.G285E)	NM_000083.3 M	SNV	P	4 +	15
280101	CLCN1	c.1453A>G	p.Met485Val (p.M485V)	NM_000083.3 M	SNV	P	4 +	15
567845	CLCN1	c.2518_2519del	p.Leu840fs (p.L840fs)	NM_000083.3 M	Del	P	3 +	14
21037	CLCN1	c.1013G>A	p.Arg338Gln (p.R338Q)	NM_000083.3 M	SNV	P	3 +	14
279778	CLCN1	c.1437_1450del	p.Pro480fs (p.P480fs)	NM_000083.3 M	Del	P	6 +	14
17539	CLCN1	c.870C>G	p.Ile290Met (p.I290M)	NM_000083.3 M	SNV	P	5 +	13
546108	CLCN1	c.1444G>A	p.Gly482Arg (p.G482R)	NM_000083.3 M	SNV	P	3 +	11
21050	CLCN1	c.920T>C	p.Phe307Ser (p.F307S)	NM_000083.3 M	SNV	P	4 +	10
447052	CLCN1	c.1471+1G>A	--	NM_000083.3 M	SNV	P	3 +	10
17538	CLCN1	c.1655A>G	p.Gln552Arg (p.Q552R)	NM_000083.3 M	SNV	P	4 +	10

762 Results, 20 per Page

...

Comparison