Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: CLCN5 & Disease: Nephrotic Syndrome, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
988249	CLCN5	c.871T>C	p.Cys291Arg (p.C291R)	NM_001127898.4 M	SNV	LP	5 +	6
	CLCN5	c.661T>C	p.Cys221Arg (p.C221R)	NM_000084.5	SNV	LP	5 +	6
	CLCN5	c.871T>C	p.Cys291Arg (p.C291R)	NM_001127899.4	SNV	LP	5 +	6
	CLCN5	c.721T>C	p.Cys241Arg (p.C241R)	NM_001282163.2	SNV	LP	5 +	6
988248	CLCN5	c.604-2A>G	--	NM_001127898.4 M	SNV	P	1 +	0
	CLCN5	c.604-2A>G	--	NM_001127899.4	SNV	P	1 +	0
	CLCN5	c.394-2A>G	--	NM_000084.5	SNV	P	1 +	0
	CLCN5	c.454-2A>G	--	NM_001282163.2	SNV	P	1 +	0

8 Results, 20 per Page

1

Comparison

Back to top