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Gene: STT3B & Disease: CDG1X, 64 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1970903	STT3B	c.976+5G>T	--	NM_178862.3 M	SNV	VUS	1 +	2
102449	STT3B	c.1539+20G>T	--	NM_178862.3 M	SNV	P	1 +	1
1686968	STT3B	c.38C>G	p.Ser13Trp (p.S13W)	NM_178862.3 M	SNV	P	1 +	1
516788	STT3B	c.2406C>A	p.Thr802= (p.T802=)	NM_178862.3 M	SNV	B	1 +	0
1563458	STT3B	c.2412G>A	p.Arg804= (p.R804=)	NM_178862.3 M	SNV	LB	1 +	0
2072720	STT3B	c.2401-5dup	--	NM_178862.3 M	Dup	B	1 +	0
655126	STT3B	c.2366A>G	p.Asn789Ser (p.N789S)	NM_178862.3 M	SNV	VUS	1 +	0
385853	STT3B	c.2401-17G>T	--	NM_178862.3 M	SNV	LB	1 +	0
389417	STT3B	c.2322A>G	p.Ala774= (p.A774=)	NM_178862.3 M	SNV	LB	1 +	0
1392903	STT3B	c.1948A>G	p.Arg650Gly (p.R650G)	NM_178862.3 M	SNV	VUS	1 +	0
972008	STT3B	c.2072G>A	p.Arg691Gln (p.R691Q)	NM_178862.3 M	SNV	VUS	1 +	0
2146898	STT3B	c.1900-11A>T	--	NM_178862.3 M	SNV	LB	1 +	0
668477	STT3B	c.1899+15_1899+16del	--	NM_178862.3 M	Del	LB	1 +	0
387997	STT3B	c.2073+14T>C	--	NM_178862.3 M	SNV	B	1 +	0
2123911	STT3B	c.1837G>A	p.Gly613Arg (p.G613R)	NM_178862.3 M	SNV	VUS	1 +	0
385858	STT3B	c.1764C>T	p.Tyr588= (p.Y588=)	NM_178862.3 M	SNV	LB	1 +	0
2182484	STT3B	c.1900-12T>A	--	NM_178862.3 M	SNV	LB	1 +	0
2015567	STT3B	c.2071C>T	p.Arg691Trp (p.R691W)	NM_178862.3 M	SNV	VUS	1 +	0
1626536	STT3B	c.1725T>C	p.Asp575= (p.D575=)	NM_178862.3 M	SNV	LB	1 +	0
2160327	STT3B	c.1533T>C	p.Tyr511= (p.Y511=)	NM_178862.3 M	SNV	LB	1 +	0

64 Results, 20 per Page

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