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Mutation Direct

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Gene: GLI3 & Disease: PHS, 568 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
13828	GLI3	c.2374C>T	p.Arg792Ter (p.R792X)	NM_000168.6 M	SNV	P	4 +	8
664752	GLI3	c.1096C>T	p.Arg366Ter (p.R366X)	NM_000168.6 M	SNV	P	3 +	6
839677	GLI3	c.1497+1G>A	--	NM_000168.6 M	SNV	P	3 +	6
2061209	GLI3	c.367+1G>A	--	NM_000168.6 M	SNV	LP	3 +	5
1067943	GLI3	c.827-2A>G	--	NM_000168.6 M	SNV	LP	3 +	5
2002389	GLI3	c.368-1G>C	--	NM_000168.6 M	SNV	LP	3 +	5
13826	GLI3	c.868C>T	p.Arg290Ter (p.R290X)	NM_000168.6 M	SNV	P	4 +	5
2082663	GLI3	c.368-2A>C	--	NM_000168.6 M	SNV	LP	3 +	5
864278	GLI3	c.91G>T	p.Glu31Ter (p.E31X)	NM_000168.6 M	SNV	P	3 +	4
835724	GLI3	c.885del	p.Ile296fs (p.I296fs)	NM_000168.6 M	Del	P	3 +	4
2019517	GLI3	c.2146del	p.Gln716fs (p.Q716fs)	NM_000168.6 M	Del	P	3 +	4
2038410	GLI3	c.836dup	p.Ser280fs (p.S280fs)	NM_000168.6 M	Dup	P	3 +	4
1358687	GLI3	c.602_675del	p.Met201fs (p.M201fs)	NM_000168.6 M	Del	P	3 +	4
2022247	GLI3	c.245_299del	p.Arg82fs (p.R82fs)	NM_000168.6 M	Del	P	3 +	4
1406215	GLI3	c.2432-1G>A	--	NM_000168.6 M	SNV	P	3 +	4
2034968	GLI3	c.1648delT	p.Phe550fs (p.F550fs)	NM_000168.6 M	Del	P	3 +	4
857479	GLI3	c.877_881del	p.Thr293fs (p.T293fs)	NM_000168.6 M	Del	P	3 +	4
1072899	GLI3	c.2090del	p.Ala697fs (p.A697fs)	NM_000168.6 M	Del	P	3 +	4
651052	GLI3	c.1433_1434del	p.Ile477_Tyr478insTer	NM_000168.6 M	Del	P	3 +	4
2033452	GLI3	c.533dup	p.His179fs (p.H179fs)	NM_000168.6 M	Dup	P	3 +	4

568 Results, 20 per Page

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