Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: ARV1 & Disease: DEE38, 27 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
183341	ARV1	c.565G>A	p.Gly189Arg (p.G189R)	NM_022786.3 M	SNV	P	3 +	2
224496	ARV1	c.294+1G>A	--	NM_022786.3 M	SNV	P	1 +	2
183341	ARV1	c.664G>A	p.Gly222Arg (p.G222R)	NM_001346992.2	SNV	P	3 +	2
224496	ARV1	c.294+1G>A	--	NM_001346992.2	SNV	P	1 +	2
520804	ARV1	c.674-2A>T	--	NM_022786.3 M	SNV	P	1 +	1
839151	ARV1	c.518dup	p.Pro174fs (p.P174fs)	NM_022786.3 M	Dup	P	1 +	1
839151	ARV1	c.518dupA	--	NM_022786.3 M	Dup	P	1 +	1
520804	ARV1	c.773-2A>T	--	NM_001346992.2	SNV	P	1 +	1
839151	ARV1	c.617dup	p.Pro207fs (p.P207fs)	NM_001346992.2	Dup	P	1 +	1
843659	ARV1	c.101G>A	p.Cys34Tyr (p.C34Y)	NM_022786.3 M	SNV	VUS	1 +	0
1034010	ARV1	c.29A>G	p.Gln10Arg (p.Q10R)	NM_022786.3 M	SNV	VUS	1 +	0
1192479	ARV1	c.175-11T>C	--	NM_022786.3 M	SNV	B	1 +	0
2439213	ARV1	c.691C>T	p.Arg231Cys (p.R231C)	NM_022786.3 M	SNV	VUS	1 +	0
1343148	ARV1	c.175-3_175-2inv	--	NM_022786.3 M	Inv	P	1 +	0
1878578	ARV1	c.573_574del	p.Leu192fs (p.L192fs)	NM_022786.3 M	MS	LP	1 +	0
1028780	ARV1	c.175-2A>G	--	NM_022786.3 M	SNV	LP	1 +	0
982604	ARV1	c.363_364del	p.Ser122fs (p.S122fs)	NM_022786.3 M	Del	LP	1 +	0
982891	ARV1	c.292_294+1del	--	NM_022786.3 M	Del	VUS	1 +	0
843659	ARV1	c.101G>A	p.Cys34Tyr (p.C34Y)	NM_001346992.2	SNV	VUS	1 +	0
1034010	ARV1	c.29A>G	p.Gln10Arg (p.Q10R)	NM_001346992.2	SNV	VUS	1 +	0

27 Results, 20 per Page

Comparison