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Gene: DYNC2I1 & Disease: Short Rib-Polydactyly Syndrome, Verma-Naumoff Type, 24 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
446627	DYNC2I1	c.2305G>A	p.Glu769Lys (p.E769K)	NM_018051.5 M	SNV	P	6 +	1
446628	DYNC2I1	c.2841del	p.Gln947fs (p.Q947fs)	NM_018051.5 M	Del	P	4 +	1
446629	DYNC2I1	c.2284C>T	p.Arg762Ter (p.R762X)	NM_018051.5 M	SNV	P	3 +	1
446630	DYNC2I1	c.2503_2505dup	p.Arg835Dup (p.R835dup)	NM_018051.5 M	Dup	P	3 +	1
446627	DYNC2I1	c.2167G>A	p.Glu723Lys (p.E723K)	NM_001350914.2	SNV	P	6 +	1
	DYNC2I1	c.1732G>A	p.Glu578Lys (p.E578K)	NM_001350915.2	SNV	P	6 +	1
	DYNC2I1	c.844G>A	p.Glu282Lys (p.E282K)	NM_001350916.2	SNV	P	6 +	1
	DYNC2I1	c.1057G>A	p.Glu353Lys (p.E353K)	NM_001350917.2	SNV	P	6 +	1
	DYNC2I1	c.1057G>A	p.Glu353Lys (p.E353K)	NM_001350918.2	SNV	P	6 +	1
446628	DYNC2I1	c.2703del	p.Gln901fs (p.Q901fs)	NM_001350914.2	Del	P	4 +	1
	DYNC2I1	c.2268del	p.Gln756fs (p.Q756fs)	NM_001350915.2	Del	P	4 +	1
	DYNC2I1	c.1380del	p.Gln460fs (p.Q460fs)	NM_001350916.2	Del	P	4 +	1
	DYNC2I1	c.1593del	p.Gln531fs (p.Q531fs)	NM_001350917.2	Del	P	4 +	1
	DYNC2I1	c.1593del	p.Gln531fs (p.Q531fs)	NM_001350918.2	Del	P	4 +	1
446629	DYNC2I1	c.2146C>T	p.Arg716Ter (p.R716X)	NM_001350914.2	SNV	P	3 +	1
	DYNC2I1	c.1711C>T	p.Arg571Ter (p.R571X)	NM_001350915.2	SNV	P	3 +	1
	DYNC2I1	c.823C>T	p.Arg275Ter (p.R275X)	NM_001350916.2	SNV	P	3 +	1
	DYNC2I1	c.1036C>T	p.Arg346Ter (p.R346X)	NM_001350917.2	SNV	P	3 +	1
	DYNC2I1	c.1036C>T	p.Arg346Ter (p.R346X)	NM_001350918.2	SNV	P	3 +	1
446630	DYNC2I1	c.2365_2367dup	p.Arg789Dup (p.R789dup)	NM_001350914.2	Dup	P	3 +	1

24 Results, 20 per Page

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