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Gene: EFEMP1 & Disease: Scoliosis, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
691884	EFEMP1	c.[320_324delTGGCA]	--	NM_001039348.3 M	Del	P	4 +	1
691884	EFEMP1	c.320_324del	p.Met107fs (p.M107fs)	NM_001039348.3 M	Del	P	4 +	1
691885	EFEMP1	c.615T>A	p.Tyr205Ter (p.Y205X)	NM_001039348.3 M	SNV	P	4 +	1
691885	EFEMP1	c.[615T>A]	--	NM_001039348.3 M	SNV	P	4 +	1
691884	EFEMP1	c.320_324del	p.Met107fs (p.M107fs)	NM_001039349.3	Del	P	4 +	1
691885	EFEMP1	c.615T>A	p.Tyr205Ter (p.Y205X)	NM_001039349.3	SNV	P	4 +	1

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