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Gene: SMPX & Disease: DFNX4, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
368152	SMPX	c.132G>A	p.Glu44= (p.E44=)	NM_014332.3 M	SNV	LB	1 +	2
417903	SMPX	c.133-1G>A	--	NM_014332.3 M	SNV	LP	1 +	2
29945	SMPX	c.175G>T	p.Gly59Ter (p.G59X)	NM_014332.3 M	SNV	P	1 +	2
975949	SMPX	c.29del	p.Asn10fs (p.N10fs)	NM_014332.3 M	Del	LP	1 +	1
29946	SMPX	c.109G>T	p.Glu37Ter (p.E37X)	NM_014332.3 M	SNV	P	1 +	1
29947	SMPX	c.214G>T	p.Glu72Ter (p.E72X)	NM_014332.3 M	SNV	P	1 +	1
29948	SMPX	c.130del	p.Glu44fs (p.E44fs)	NM_014332.3 M	Del	P	1 +	1
40063	SMPX	c.99del	p.Arg34fs (p.R34fs)	NM_014332.3 M	Del	P	1 +	1
368149	SMPX	c.*395T>G	--	NM_014332.3 M	SNV	VUS	1 +	0
368150	SMPX	c.*45A>T	--	NM_014332.3 M	SNV	VUS	1 +	0
368151	SMPX	c.264G>A	p.Gln88= (p.Q88=)	NM_014332.3 M	SNV	VUS	1 +	0
368153	SMPX	c.-54G>A	--	NM_014332.3 M	SNV	VUS	1 +	0
1297079	SMPX	c.132+1G>A	--	NM_014332.3 M	SNV	LP	1 +	0
914501	SMPX	c.-103C>T	--	NM_014332.3 M	SNV	VUS	1 +	0
913387	SMPX	c.*232T>G	--	NM_014332.3 M	SNV	VUS	1 +	0
913388	SMPX	c.*181A>G	--	NM_014332.3 M	SNV	VUS	1 +	0

16 Results, 20 per Page

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