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Gene: LDLR & Disease: Syndromic X-Linked Intellectual Disability Najm Type, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
161271	LDLR	c.1775G>A	p.Gly592Glu (p.G592E)	NM_000527.5 M	SNV	P	5 +	61
	LDLR	c.1775G>A	p.Gly592Glu (p.G592E)	NM_001195798.2	SNV	P	5 +	61
	LDLR	c.1652G>A	p.Gly551Glu (p.G551E)	NM_001195799.2	SNV	P	5 +	61
	LDLR	c.1271G>A	p.Gly424Glu (p.G424E)	NM_001195800.2	SNV	P	5 +	61
	LDLR	c.1394G>A	p.Gly465Glu (p.G465E)	NM_001195803.2	SNV	P	5 +	61

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