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Gene: LDLR & Disease: Carotid Artery Occlusion, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
3691	LDLR	c.682G>A	p.Glu228Lys (p.E228K)	NM_000527.5 M	SNV	P	7 +	27
	LDLR	c.682G>A	p.Glu228Lys (p.E228K)	NM_001195798.2	SNV	P	7 +	27
	LDLR	c.559G>A	p.Glu187Lys (p.E187K)	NM_001195799.2	SNV	P	7 +	27
	LDLR	c.314-977G>A	--	NM_001195803.2	SNV	P	7 +	27
	LDLR	c.314-1804G>A	--	NM_001195800.2	SNV	P	7 +	27

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