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Gene: SAG & Disease: RP47, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
12951	SAG	c.926del	p.Asn309fs (p.N309fs)	NM_000541.5 M	Del	P	2 +	9
12951	SAG	c.926delA	--	NM_000541.5 M	Del	P	2 +	9
41895	SAG	c.577C>T	p.Arg193Ter (p.R193X)	NM_000541.5 M	SNV	P	5 +	6
194605	SAG	c.1132G>A	p.Val378Ile (p.V378I)	NM_000541.5 M	SNV	VUS	5 +	2
811941	SAG	c.944+5G>A	--	NM_000541.5 M	SNV	VUS	4 +	2
2138165	SAG	c.733G>A	p.Val245Met (p.V245M)	NM_000541.5 M	SNV	VUS	1 +	2
1351684	SAG	c.682G>A	p.Val228Met (p.V228M)	NM_000541.5 M	SNV	VUS	2 +	2
41898	SAG	c.916G>T	p.Glu306Ter (p.E306X)	NM_000541.5 M	SNV	P	2 +	1
898283	SAG	c.208C>T	p.Arg70Cys (p.R70C)	NM_000541.5 M	SNV	VUS	5 +	0

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