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Gene: NEK1 & Disease: Short Rib-Polydactyly Syndrome, Beemer-Langer Type, 11 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
446674	NEK1	c.418G>A	p.Gly140Arg (p.G140R)	NM_001199397.3 M	SNV	P	3 +	1
	NEK1	c.418G>A	p.Gly140Arg (p.G140R)	NM_001199398.3	SNV	P	3 +	1
	NEK1	c.418G>A	p.Gly140Arg (p.G140R)	NM_001199399.3	SNV	P	3 +	1
	NEK1	c.418G>A	p.Gly140Arg (p.G140R)	NM_001199400.3	SNV	P	3 +	1
	NEK1	c.418G>A	p.Gly140Arg (p.G140R)	NM_001374418.1	SNV	P	3 +	1
	NEK1	c.418G>A	p.Gly140Arg (p.G140R)	NM_001374419.1	SNV	P	3 +	1
	NEK1	c.418G>A	p.Gly140Arg (p.G140R)	NM_001374420.1	SNV	P	3 +	1
	NEK1	c.418G>A	p.Gly140Arg (p.G140R)	NM_001374421.1	SNV	P	3 +	1
	NEK1	c.418G>A	p.Gly140Arg (p.G140R)	NM_001374422.1	SNV	P	3 +	1
	NEK1	c.418G>A	p.Gly140Arg (p.G140R)	NM_001374423.1	SNV	P	3 +	1
	NEK1	c.418G>A	p.Gly140Arg (p.G140R)	NM_012224.4	SNV	P	3 +	1

11 Results, 20 per Page

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