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Gene: EFEMP2 & Disease: ARCL1A, 11 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
39011	EFEMP2	c.376G>A	p.Glu126Lys (p.E126K)	NM_016938.5 M	SNV	P	2 +	8
5424	EFEMP2	c.835C>T	p.Arg279Cys (p.R279C)	NM_016938.5 M	SNV	P	2 +	7
39009	EFEMP2	c.1189G>A	p.Ala397Thr (p.A397T)	NM_016938.5 M	SNV	P	2 +	3
39016	EFEMP2	c.800G>A	p.Cys267Tyr (p.C267Y)	NM_016938.5 M	SNV	P	2 +	3
39012	EFEMP2	c.377A>T	p.Glu126Val (p.E126V)	NM_016938.5 M	SNV	P	2 +	2
39013	EFEMP2	c.577del	p.Gln193fs (p.Q193fs)	NM_016938.5 M	Del	P	2 +	2
39014	EFEMP2	c.608A>C	p.Asp203Ala (p.D203A)	NM_016938.5 M	SNV	P	2 +	2
5423	EFEMP2	c.169G>A	p.Glu57Lys (p.E57K)	NM_016938.5 M	SNV	P	2 +	2
5425	EFEMP2	c.1070_1073dup	p.Asp359fs (p.D359fs)	NM_016938.5 M	Dup	P	2 +	2
39010	EFEMP2	c.1226G>A	p.Arg409Gln (p.R409Q)	NM_016938.5 M	SNV	VUS	2 +	1
39015	EFEMP2	c.775A>G	p.Ile259Val (p.I259V)	NM_016938.5 M	SNV	B	2 +	1

11 Results, 20 per Page

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