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Gene: TUSC3 & Disease: CDG1N, 312 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
95432	TUSC3	c.992C>A	p.Ser331Ter (p.S331X)	NM_006765.4 M	SNV	P	2 +	6
	TUSC3	c.992C>A	p.Ser331Ter (p.S331X)	NM_001356429.2	SNV	P	2 +	6
	TUSC3	c.992C>A	p.Ser331Ter (p.S331X)	NM_178234.2	SNV	P	2 +	6
547986	TUSC3	c.38C>T	p.Ala13Val (p.A13V)	NM_006765.4 M	SNV	VUS	2 +	1
	TUSC3	c.38C>T	p.Ala13Val (p.A13V)	NM_001356429.2	SNV	VUS	2 +	1
	TUSC3	c.38C>T	p.Ala13Val (p.A13V)	NM_178234.2	SNV	VUS	2 +	1
908290	TUSC3	c.*686A>C	--	NM_006765.4 M	SNV	VUS	1 +	0
908291	TUSC3	c.*763A>C	--	NM_006765.4 M	SNV	VUS	1 +	0
908355	TUSC3	c.*2057T>C	--	NM_006765.4 M	SNV	VUS	1 +	0
908356	TUSC3	c.*2101A>G	--	NM_006765.4 M	SNV	VUS	1 +	0
908357	TUSC3	c.*2131G>T	--	NM_006765.4 M	SNV	VUS	1 +	0
130692	TUSC3	c.193A>G	p.Ile65Val (p.I65V)	NM_006765.4 M	SNV	LB	2 +	0
910997	TUSC3	c.-111C>A	--	NM_006765.4 M	SNV	VUS	1 +	0
910998	TUSC3	c.-91G>A	--	NM_006765.4 M	SNV	LB	1 +	0
910999	TUSC3	c.-88T>G	--	NM_006765.4 M	SNV	LB	1 +	0
911000	TUSC3	c.-82A>G	--	NM_006765.4 M	SNV	VUS	1 +	0
911001	TUSC3	c.-51G>A	--	NM_006765.4 M	SNV	VUS	1 +	0
362310	TUSC3	c.259A>G	p.Ile87Val (p.I87V)	NM_006765.4 M	SNV	VUS	1 +	0
362316	TUSC3	c.*589G>A	--	NM_006765.4 M	SNV	VUS	1 +	0
362317	TUSC3	c.*605C>G	--	NM_006765.4 M	SNV	VUS	1 +	0

312 Results, 20 per Page

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