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Gene: AGA & Disease: AGU, 763 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
219	AGA	c.488G>C	p.Cys163Ser (p.C163S)	NM_000027.4 M	SNV	P	1 +	12
219	AGA	c.488G>C	p.Cys163Ser (p.C163S)	NM_001171988.2	SNV	P	1 +	12
227	AGA	c.940+1G>T	--	NM_000027.4 M	SNV	P	1 +	7
227	AGA	c.910+1G>T	--	NM_001171988.2	SNV	P	1 +	7
650146	AGA	c.376C>G	p.Leu126Val (p.L126V)	NM_000027.4 M	SNV	LB	1 +	6
650146	AGA	c.376C>G	p.Leu126Val (p.L126V)	NM_001171988.2	SNV	LB	1 +	6
223	AGA	c.302C>T	p.Ala101Val (p.A101V)	NM_000027.4 M	SNV	P	1 +	5
55950	AGA	c.677G>A	p.Gly226Asp (p.G226D)	NM_000027.4 M	SNV	P	1 +	5
223	AGA	c.302C>T	p.Ala101Val (p.A101V)	NM_001171988.2	SNV	P	1 +	5
55950	AGA	c.676+1G>A	--	NM_001171988.2	SNV	P	1 +	5
1071135	AGA	c.128-2A>G	--	NM_000027.4 M	SNV	P	1 +	4
555229	AGA	c.940+1G>A	--	NM_000027.4 M	SNV	P	1 +	4
222	AGA	c.179G>A	p.Gly60Asp (p.G60D)	NM_000027.4 M	SNV	P	1 +	4
55952	AGA	c.755G>A	p.Gly252Glu (p.G252E)	NM_000027.4 M	SNV	LP	1 +	4
1071135	AGA	c.128-2A>G	--	NM_001171988.2	SNV	P	1 +	4
555229	AGA	c.910+1G>A	--	NM_001171988.2	SNV	P	1 +	4
222	AGA	c.179G>A	p.Gly60Asp (p.G60D)	NM_001171988.2	SNV	P	1 +	4
55952	AGA	c.725G>A	p.Gly242Glu (p.G242E)	NM_001171988.2	SNV	LP	1 +	4
641051	AGA	c.698+1G>A	--	NM_000027.4 M	SNV	LP	1 +	3
55940	AGA	c.299G>A	p.Gly100Glu (p.G100E)	NM_000027.4 M	SNV	LP	1 +	3

763 Results, 20 per Page

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