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Gene: PDE2A & Disease: Choreatic Disease, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
689477	PDE2A	c.1180C>T	p.Gln394Ter (p.Q394X)	NM_002599.5 M	SNV	P	3 +	1
	PDE2A	c.1159C>T	p.Gln387Ter (p.Q387X)	NM_001143839.4	SNV	P	3 +	1
	PDE2A	c.1153C>T	p.Gln385Ter (p.Q385X)	NM_001146209.3	SNV	P	3 +	1
	PDE2A	c.1117C>T	p.Gln373Ter (p.Q373X)	NM_001243784.2	SNV	P	3 +	1

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