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Gene: SATB2 & Disease: CPI, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
522269	SATB2	c.1375C>T	p.Arg459Ter (p.R459X)	NM_001172509.2 M	SNV	P	3 +	7
	SATB2	c.1375C>T	p.Arg459Ter (p.R459X)	NM_001172517.1	SNV	P	3 +	7
	SATB2	c.1375C>T	p.Arg459Ter (p.R459X)	NM_015265.4	SNV	P	3 +	7
2519	SATB2	c.715C>T	p.Arg239Ter (p.R239X)	NM_001172509.2 M	SNV	P	2 +	5
	SATB2	c.715C>T	p.Arg239Ter (p.R239X)	NM_001172517.1	SNV	P	2 +	5
	SATB2	c.715C>T	p.Arg239Ter (p.R239X)	NM_015265.4	SNV	P	2 +	5
523423	SATB2	c.1654_1655del	p.Arg552fs (p.R552fs)	NM_001172509.2 M	MS	P	1 +	0
	SATB2	c.1654_1655del	p.Arg552fs (p.R552fs)	NM_001172517.1	MS	P	1 +	0
	SATB2	c.1654_1655del	p.Arg552fs (p.R552fs)	NM_015265.4	MS	P	1 +	0

9 Results, 20 per Page

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