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Gene: CD46 & Disease: AHUS2, 1058 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
505831	CD46	c.286+2T>G	--	NM_172351.3 M	SNV	P	2 +	18
	CD46	c.286+2T>G	--	NM_002389.4	SNV	P	2 +	18
	CD46	c.286+2T>G	--	NM_172359.3	SNV	P	2 +	18
	CD46	c.286+2T>G	--	NM_153826.4	SNV	P	2 +	18
	CD46	c.286+2T>G	--	NM_172358.3	SNV	P	2 +	18
	CD46	c.286+2T>G	--	NM_172355.3	SNV	P	2 +	18
	CD46	c.286+2T>G	--	NM_172356.3	SNV	P	2 +	18
	CD46	c.286+2T>G	--	NM_172352.3	SNV	P	2 +	18
	CD46	c.286+2T>G	--	NM_172353.3	SNV	P	2 +	18
	CD46	c.286+2T>G	--	NM_172350.3	SNV	P	2 +	18
	CD46	c.286+2T>G	--	NM_172357.3	SNV	P	2 +	18
	CD46	c.286+2T>G	--	NM_172361.3	SNV	P	2 +	18
876704	CD46	c.586G>C	p.Gly196Arg (p.G196R)	NM_172351.3 M	SNV	VUS	1 +	8
17049	CD46	c.104G>A	p.Cys35Tyr (p.C35Y)	NM_172351.3 M	SNV	LP	1 +	8
876704	CD46	c.586G>C	p.Gly196Arg (p.G196R)	NM_002389.4	SNV	VUS	1 +	8
	CD46	c.586G>C	p.Gly196Arg (p.G196R)	NM_153826.4	SNV	VUS	1 +	8
	CD46	c.586G>C	p.Gly196Arg (p.G196R)	NM_172350.3	SNV	VUS	1 +	8
	CD46	c.586G>C	p.Gly196Arg (p.G196R)	NM_172352.3	SNV	VUS	1 +	8
	CD46	c.586G>C	p.Gly196Arg (p.G196R)	NM_172353.3	SNV	VUS	1 +	8
	CD46	c.586G>C	p.Gly196Arg (p.G196R)	NM_172355.3	SNV	VUS	1 +	8

1058 Results, 20 per Page

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