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Gene: IMPG1 & Disease: RP, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1240018	IMPG1	c.1824+1G>A	--	NM_001563.4 M	SNV	P	5 +	4
1240018	IMPG1	c.1590+1G>A	--	NM_001282368.2	SNV	P	5 +	4
1063374	IMPG1	c.1876C>T	p.Leu626Phe (p.L626F)	NM_001563.4 M	SNV	LP	4 +	2
1063374	IMPG1	c.1642C>T	p.Leu548Phe (p.L548F)	NM_001282368.2	SNV	LP	4 +	2
547007	IMPG1	c.1291+1G>T	--	NM_001563.4 M	SNV	P	2 +	0
1803198	IMPG1	c.742A>C	p.Lys248Gln (p.K248Q)	NM_001563.4 M	SNV	VUS	2 +	0
547007	IMPG1	c.1057+1G>T	--	NM_001282368.2	SNV	P	2 +	0
1803198	IMPG1	c.508A>C	p.Lys170Gln (p.K170Q)	NM_001282368.2	SNV	VUS	2 +	0

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