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Gene: DDX3X & Disease: Rare Genetic Intellectual Disability, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
207812	DDX3X	c.1535_1536del	p.His512fs (p.H512fs)	NM_001356.5 M	Del	P	3 +	5
	DDX3X	c.1535_1536del	p.His512fs (p.H512fs)	NM_001193416.3	Del	P	3 +	5
	DDX3X	c.1487_1488del	p.His496fs (p.H496fs)	NM_001193417.3	Del	P	3 +	5
	DDX3X	c.977_978del	p.His326fs (p.H326fs)	NM_001363819.1	Del	P	3 +	5
978389	DDX3X	c.454dup	p.Ser152fs (p.S152fs)	NM_001356.5 M	Dup	P	2 +	1
	DDX3X	c.454dup	p.Ser152fs (p.S152fs)	NM_001193416.3	Dup	P	2 +	1
	DDX3X	c.406dup	p.Ser136fs (p.S136fs)	NM_001193417.3	Dup	P	2 +	1
	DDX3X	c.-105dup	--	NM_001363819.1	Dup	P	2 +	1
978395	DDX3X	c.1424G>T	p.Arg475Leu (p.R475L)	NM_001356.5 M	SNV	LP	1 +	0
	DDX3X	c.1424G>T	p.Arg475Leu (p.R475L)	NM_001193416.3	SNV	LP	1 +	0
	DDX3X	c.1376G>T	p.Arg459Leu (p.R459L)	NM_001193417.3	SNV	LP	1 +	0
	DDX3X	c.866G>T	p.Arg289Leu (p.R289L)	NM_001363819.1	SNV	LP	1 +	0

12 Results, 20 per Page

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