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Gene: FOXI3 & Disease: CFM1, 13 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2431343	FOXI3	c.706C>T	p.Arg236Trp (p.R236W)	NM_001135649.3 M	SNV	P	2 +	2
2431340	FOXI3	c.718C>T	p.Arg240Cys (p.R240C)	NM_001135649.3 M	SNV	P	2 +	2
2431350	FOXI3	c.702C>A	p.Phe234Leu (p.F234L)	NM_001135649.3 M	SNV	P	2 +	1
2431349	FOXI3	c.700T>G	p.Phe234Val (p.F234V)	NM_001135649.3 M	SNV	P	2 +	1
1353346	FOXI3	c.719G>A	p.Arg240His (p.R240H)	NM_001135649.3 M	SNV	LP	1 +	1
1986646	FOXI3	c.1117_1128del	--	NM_001135649.3 M	MS	LP	1 +	1
1986646	FOXI3	c.1105AGCAATAGCACC[1]	p.369SNST[1]	NM_001135649.3 M	MS	LP	1 +	1
2431339	FOXI3	c.1243C>T	p.Arg415Ter (p.R415X)	NM_001135649.3 M	SNV	LP	1 +	1
2431347	FOXI3	c.305T>A	p.Phe102Tyr (p.F102Y)	NM_001135649.3 M	SNV	LP	1 +	0
2431348	FOXI3	c.673T>C	p.Cys225Arg (p.C225R)	NM_001135649.3 M	SNV	LP	1 +	0
2431342	FOXI3	c.707G>A	p.Arg236Gln (p.R236Q)	NM_001135649.3 M	SNV	LP	1 +	0
2430158	FOXI3	c.703C>T	p.Arg235Cys (p.R235C)	NM_001135649.3 M	SNV	LP	1 +	0
2431341	FOXI3	c.713G>A	p.Arg238Gln (p.R238Q)	NM_001135649.3 M	SNV	LP	1 +	0

13 Results, 20 per Page

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