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Gene: PUF60 & Disease: NEDHIB, 11 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
997952	PUF60	c.1399C>G	p.Arg467Gly (p.R467G)	NM_078480.3 M	SNV	LP	1 +	1
	PUF60	c.1270C>G	p.Arg424Gly (p.R424G)	NM_001136033.3	SNV	LP	1 +	1
	PUF60	c.1345C>G	p.Arg449Gly (p.R449G)	NM_001271096.2	SNV	LP	1 +	1
	PUF60	c.1261C>G	p.Arg421Gly (p.R421G)	NM_001271097.2	SNV	LP	1 +	1
	PUF60	c.1396C>G	p.Arg466Gly (p.R466G)	NM_001271098.2	SNV	LP	1 +	1
	PUF60	c.1312C>G	p.Arg438Gly (p.R438G)	NM_001271099.2	SNV	LP	1 +	1
	PUF60	c.1219C>G	p.Arg407Gly (p.R407G)	NM_001271100.2	SNV	LP	1 +	1
	PUF60	c.1510C>G	p.Arg504Gly (p.R504G)	NM_001362895.2	SNV	LP	1 +	1
	PUF60	c.1510C>G	p.Arg504Gly (p.R504G)	NM_001362896.2	SNV	LP	1 +	1
	PUF60	c.1459C>G	p.Arg487Gly (p.R487G)	NM_001362897.2	SNV	LP	1 +	1
	PUF60	c.1348C>G	p.Arg450Gly (p.R450G)	NM_014281.5	SNV	LP	1 +	1

11 Results, 20 per Page

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