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Gene: IMPG1 & Disease: RP91, 12 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
1008228	IMPG1	c.1736T>C	p.Leu579Pro (p.L579P)	NM_001563.4 M	SNV	P	2 +	3
1008228	IMPG1	c.1502T>C	p.Leu501Pro (p.L501P)	NM_001282368.2	SNV	P	2 +	3
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
1043806	IMPG1	c.1838T>C	p.Leu613Pro (p.L613P)	NM_001563.4 M	SNV	P	2 +	1
1043806	IMPG1	c.1604T>C	p.Leu535Pro (p.L535P)	NM_001282368.2	SNV	P	2 +	1
1709818	IMPG1	c.1079G>A	p.Ser360Asn (p.S360N)	NM_001563.4 M	SNV	VUS	2 +	0
1165049	IMPG1	c.1552C>G	p.His518Asp (p.H518D)	NM_001563.4 M	SNV	B	3 +	0
1709818	IMPG1	c.845G>A	p.Ser282Asn (p.S282N)	NM_001282368.2	SNV	VUS	2 +	0
1165049	IMPG1	c.1318C>G	p.His440Asp (p.H440D)	NM_001282368.2	SNV	B	3 +	0

12 Results, 20 per Page

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