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Gene: IRF6 & Disease: VWS1, 403 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
3415	IRF6	c.251G>A	p.Arg84His (p.R84H)	NM_006147.4 M	SNV	P	4 +	9
3415	IRF6	c.-35G>A	--	NM_001206696.2	SNV	P	4 +	9
3414	IRF6	c.250C>T	p.Arg84Cys (p.R84C)	NM_006147.4 M	SNV	P	4 +	7
458682	IRF6	c.1234C>T	p.Arg412Ter (p.R412X)	NM_006147.4 M	SNV	P	4 +	7
3414	IRF6	c.-36C>T	--	NM_001206696.2	SNV	P	4 +	7
458682	IRF6	c.949C>T	p.Arg317Ter (p.R317X)	NM_001206696.2	SNV	P	4 +	7
458679	IRF6	c.1060+1G>A	--	NM_006147.4 M	SNV	P	4 +	6
3419	IRF6	c.1198C>T	p.Arg400Trp (p.R400W)	NM_006147.4 M	SNV	P	4 +	6
458679	IRF6	c.775+1G>A	--	NM_001206696.2	SNV	P	4 +	6
3419	IRF6	c.913C>T	p.Arg305Trp (p.R305W)	NM_001206696.2	SNV	P	4 +	6
1074446	IRF6	c.748C>T	p.Arg250Ter (p.R250X)	NM_006147.4 M	SNV	P	4 +	5
259925	IRF6	c.459G>T	p.Ser153= (p.S153=)	NM_006147.4 M	SNV	B	4 +	5
2050435	IRF6	c.1089del	p.Ile363fs (p.I363fs)	NM_006147.4 M	Del	P	4 +	5
1074446	IRF6	c.463C>T	p.Arg155Ter (p.R155X)	NM_001206696.2	SNV	P	4 +	5
259925	IRF6	c.174G>T	p.Ser58= (p.S58=)	NM_001206696.2	SNV	B	4 +	5
2050435	IRF6	c.804del	p.Ile268fs (p.I268fs)	NM_001206696.2	Del	P	4 +	5
449039	IRF6	c.25C>T	p.Arg9Trp (p.R9W)	NM_006147.4 M	SNV	P	4 +	4
938570	IRF6	c.622C>T	p.Gln208Ter (p.Q208X)	NM_006147.4 M	SNV	P	4 +	4
3421	IRF6	c.134G>A	p.Arg45Gln (p.R45Q)	NM_006147.4 M	SNV	P	2 +	4
650115	IRF6	c.292G>C	p.Asp98His (p.D98H)	NM_006147.4 M	SNV	LP	4 +	4

403 Results, 20 per Page

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