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Gene: MMAA & Disease: MMAA, 681 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
3160	MMAA	c.433C>T	p.Arg145Ter (p.R145X)	NM_172250.3 M	SNV	P	3 +	13
466217	MMAA	c.586C>T	p.Arg196Ter (p.R196X)	NM_172250.3 M	SNV	P	3 +	8
203815	MMAA	c.593_596del	p.Thr198fs (p.T198fs)	NM_172250.3 M	Del	P	3 +	7
203815	MMAA	c.593_596delCTGA	--	NM_172250.3 M	Del	P	3 +	7
218969	MMAA	c.64C>T	p.Arg22Ter (p.R22X)	NM_172250.3 M	SNV	P	3 +	7
218978	MMAA	c.733+1G>A	--	NM_172250.3 M	SNV	P	2 +	7
218978	MMAA	c.733+1G>A	--	NM_001375644.1	SNV	P	2 +	7
551182	MMAA	c.450dup	p.Pro151fs (p.P151fs)	NM_172250.3 M	Dup	P	3 +	6
496554	MMAA	c.742C>T	p.Gln248Ter (p.Q248X)	NM_172250.3 M	SNV	P	3 +	6
3158	MMAA	c.283C>T	p.Gln95Ter (p.Q95X)	NM_172250.3 M	SNV	P	3 +	6
203814	MMAA	c.387C>A	p.Tyr129Ter (p.Y129X)	NM_172250.3 M	SNV	P	3 +	5
203816	MMAA	c.988C>T	p.Arg330Ter (p.R330X)	NM_172250.3 M	SNV	P	3 +	5
554640	MMAA	c.551dup	p.Cys184fs (p.C184fs)	NM_172250.3 M	Dup	P	2 +	5
218976	MMAA	c.650T>A	p.Leu217Ter (p.L217X)	NM_172250.3 M	SNV	P	3 +	5
218977	MMAA	c.653G>A	p.Gly218Glu (p.G218E)	NM_172250.3 M	SNV	LP	3 +	5
218974	MMAA	c.503del	p.Thr168fs (p.T168fs)	NM_172250.3 M	Del	P	2 +	5
1073197	MMAA	c.434G>A	p.Arg145Gln (p.R145Q)	NM_172250.3 M	SNV	P	2 +	4
848322	MMAA	c.820-1G>C	--	NM_172250.3 M	SNV	LP	2 +	4
440795	MMAA	c.72C>A	p.Tyr24Ter (p.Y24X)	NM_172250.3 M	SNV	P	2 +	4
1350506	MMAA	c.898C>T	p.Arg300Ter (p.R300X)	NM_172250.3 M	SNV	P	2 +	4

681 Results, 20 per Page

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