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Gene: WDR45 & Disease: Cerebral-Cerebellar-Coloboma Syndrome, X-Linked, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
212592	WDR45	c.397C>T	p.Arg133Ter (p.R133X)	NM_001029896.2 M	SNV	P	2 +	9
212592	WDR45	c.400C>T	p.Arg134Ter (p.R134X)	NM_007075.4	SNV	P	2 +	9
218903	WDR45	c.158TGG[1]	p.Val54Del (p.V54del)	NM_001029896.2 M	MS	LP	2 +	5
218903	WDR45	c.158TGG[1]	p.Val54Del (p.V54del)	NM_007075.4	MS	LP	2 +	5
560932	WDR45	c.131-11_145del	--	NM_001029896.2 M	Del	P	1 +	1
560932	WDR45	c.131-11_145del	--	NM_007075.4	Del	P	1 +	1

6 Results, 20 per Page

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