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Gene: CNPY3-GNMT & Disease: GNMT DEFICIENCY, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4169	CNPY3-GNMT	c.9-1296T>C	--	NM_001318856.2	SNV	P	1 +	2
	CNPY3-GNMT	c.152-1846T>C	--	NM_001318857.2	SNV	P	1 +	2
	CNPY3-GNMT	c.152-1846T>C	--	NM_001318858.2	SNV	P	1 +	2
4170	CNPY3-GNMT	c.331C>A	p.His111Asn (p.H111N)	NM_001318856.2	SNV	P	1 +	1
	CNPY3-GNMT	c.346C>A	p.His116Asn (p.H116N)	NM_001318857.2	SNV	P	1 +	1
	CNPY3-GNMT	c.269-31C>A	--	NM_001318858.2	SNV	P	1 +	1
218931	CNPY3-GNMT	c.224A>G	p.Asn75Ser (p.N75S)	NM_001318856.2	SNV	P	1 +	1
	CNPY3-GNMT	c.239A>G	p.Asn80Ser (p.N80S)	NM_001318857.2	SNV	P	1 +	1
	CNPY3-GNMT	c.239A>G	p.Asn80Ser (p.N80S)	NM_001318858.2	SNV	P	1 +	1

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