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Gene: MAG & Disease: SPG75, 642 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1916941	MAG	c.46+6G>A	--	NM_002361.4 M	SNV	VUS	1 +	2
1168416	MAG	c.462G>A	p.Glu154= (p.E154=)	NM_002361.4 M	SNV	B	1 +	2
2154135	MAG	c.970+3G>A	--	NM_002361.4 M	SNV	VUS	1 +	2
1568965	MAG	c.1716+18G>C	--	NM_002361.4 M	SNV	LB	1 +	2
445646	MAG	c.1274G>A	p.Arg425Gln (p.R425Q)	NM_002361.4 M	SNV	VUS	1 +	2
424677	MAG	c.1117A>C	p.Ser373Arg (p.S373R)	NM_002361.4 M	SNV	VUS	2 +	2
663905	MAG	c.46+5C>A	--	NM_002361.4 M	SNV	VUS	1 +	2
1439086	MAG	c.415+4A>C	--	NM_002361.4 M	SNV	VUS	1 +	2
1168325	MAG	c.399C>T	p.Ser133= (p.S133=)	NM_002361.4 M	SNV	B	1 +	2
1916941	MAG	c.-80G>A	--	NM_001199216.2	SNV	VUS	1 +	2
1916941	MAG	c.46+6G>A	--	NM_080600.3	SNV	VUS	1 +	2
1168416	MAG	c.387G>A	p.Glu129= (p.E129=)	NM_001199216.2	SNV	B	1 +	2
1168416	MAG	c.462G>A	p.Glu154= (p.E154=)	NM_080600.3	SNV	B	1 +	2
2154135	MAG	c.970+3G>A	--	NM_080600.3	SNV	VUS	1 +	2
2154135	MAG	c.895+3G>A	--	NM_001199216.2	SNV	VUS	1 +	2
1568965	MAG	c.1716+18G>C	--	NM_080600.3	SNV	LB	1 +	2
1568965	MAG	c.1641+18G>C	--	NM_001199216.2	SNV	LB	1 +	2
445646	MAG	c.1199G>A	p.Arg400Gln (p.R400Q)	NM_001199216.2	SNV	VUS	1 +	2
445646	MAG	c.1274G>A	p.Arg425Gln (p.R425Q)	NM_080600.3	SNV	VUS	1 +	2
424677	MAG	c.1042A>C	p.Ser348Arg (p.S348R)	NM_001199216.2	SNV	VUS	2 +	2

642 Results, 20 per Page

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