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Mutation Direct

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Gene: SNRNP200 & Disease: RP, 115 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
636112	SNRNP200	c.2041C>T	p.Arg681Cys (p.R681C)	NM_014014.5 M	SNV	P	3 +	7
7928	SNRNP200	c.3260C>T	p.Ser1087Leu (p.S1087L)	NM_014014.5 M	SNV	P	4 +	6
143144	SNRNP200	c.2042G>A	p.Arg681His (p.R681H)	NM_014014.5 M	SNV	P	4 +	5
523502	SNRNP200	c.3133C>A	p.Pro1045Thr (p.P1045T)	NM_014014.5 M	SNV	VUS	1 +	3
337548	SNRNP200	c.3550T>C	p.Leu1184= (p.L1184=)	NM_014014.5 M	SNV	B	3 +	3
196134	SNRNP200	c.3654C>T	p.Ser1218= (p.S1218=)	NM_014014.5 M	SNV	LB	3 +	3
337536	SNRNP200	c.5317C>T	p.Leu1773= (p.L1773=)	NM_014014.5 M	SNV	B	3 +	3
337529	SNRNP200	c.5943T>C	p.Ser1981= (p.S1981=)	NM_014014.5 M	SNV	LB	2 +	3
708634	SNRNP200	c.90G>C	p.Arg30= (p.R30=)	NM_014014.5 M	SNV	LB	2 +	2
896418	SNRNP200	c.87C>T	p.Asp29= (p.D29=)	NM_014014.5 M	SNV	LB	2 +	2
337562	SNRNP200	c.723G>A	p.Ser241= (p.S241=)	NM_014014.5 M	SNV	B	3 +	2
337558	SNRNP200	c.1148G>A	p.Arg383His (p.R383H)	NM_014014.5 M	SNV	LB	2 +	2
813240	SNRNP200	c.1462C>T	p.Leu488Phe (p.L488F)	NM_014014.5 M	SNV	P	2 +	2
954875	SNRNP200	c.2716G>A	p.Val906Met (p.V906M)	NM_014014.5 M	SNV	VUS	2 +	2
618377	SNRNP200	c.4721T>C	p.Ile1574Thr (p.I1574T)	NM_014014.5 M	SNV	LB	2 +	2
813241	SNRNP200	c.5654A>G	p.Asn1885Ser (p.N1885S)	NM_014014.5 M	SNV	P	2 +	2
197443	SNRNP200	c.5766C>T	p.Leu1922= (p.L1922=)	NM_014014.5 M	SNV	LB	3 +	2
337528	SNRNP200	c.5983G>A	p.Ala1995Thr (p.A1995T)	NM_014014.5 M	SNV	LB	3 +	2
898980	SNRNP200	c.6093-6C>T	--	NM_014014.5 M	SNV	LB	2 +	2
337526	SNRNP200	c.6174+4C>T	--	NM_014014.5 M	SNV	VUS	2 +	2

115 Results, 20 per Page

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