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Gene: CRB1 & Disease: STGD, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
521051	CRB1	c.3172G>T	p.Glu1058Ter (p.E1058X)	NM_201253.3 M	SNV	P	4 +	7
	CRB1	c.2129-565G>T	--	NM_001257966.2	SNV	P	4 +	7
	CRB1	c.2836G>T	p.Glu946Ter (p.E946X)	NM_001193640.2	SNV	P	4 +	7
	CRB1	c.3100G>T	p.Glu1034Ter (p.E1034X)	NM_001257965.2	SNV	P	4 +	7
560443	CRB1	c.849-26A>G	--	NM_201253.3 M	SNV	VUS	2 +	0
	CRB1	c.642-26A>G	--	NM_001257965.2	SNV	VUS	2 +	0
	CRB1	c.849-26A>G	--	NM_001257966.2	SNV	VUS	2 +	0
	CRB1	c.653-9517A>G	--	NM_001193640.2	SNV	VUS	2 +	0

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