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Gene: LDLR & Disease: Lipid Metabolism Disorder, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1705272	LDLR	c.1338del	p.Ser447fs (p.S447fs)	NM_000527.5 M	Del	P	1 +	0
1705273	LDLR	c.1298A>T	p.Asp433Val (p.D433V)	NM_000527.5 M	SNV	LP	1 +	0
1705272	LDLR	c.1338del	p.Ser447fs (p.S447fs)	NM_001195798.2	Del	P	1 +	0
	LDLR	c.1215del	p.Ser406fs (p.S406fs)	NM_001195799.2	Del	P	1 +	0
	LDLR	c.834del	p.Ser279fs (p.S279fs)	NM_001195800.2	Del	P	1 +	0
	LDLR	c.957del	p.Ser320fs (p.S320fs)	NM_001195803.2	Del	P	1 +	0
1705273	LDLR	c.1298A>T	p.Asp433Val (p.D433V)	NM_001195798.2	SNV	LP	1 +	0
	LDLR	c.1175A>T	p.Asp392Val (p.D392V)	NM_001195799.2	SNV	LP	1 +	0
	LDLR	c.794A>T	p.Asp265Val (p.D265V)	NM_001195800.2	SNV	LP	1 +	0
	LDLR	c.917A>T	p.Asp306Val (p.D306V)	NM_001195803.2	SNV	LP	1 +	0

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