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Gene: FOXE3 & Disease: ASGD2, 208 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1077103	FOXE3	c.21_24del	p.Met7fs (p.M7fs)	NM_012186.3 M	Del	P	1 +	7
983475	FOXE3	c.289A>G	p.Ile97Val (p.I97V)	NM_012186.3 M	SNV	P	1 +	6
667373	FOXE3	c.244A>G	p.Met82Val (p.M82V)	NM_012186.3 M	SNV	P	3 +	6
8448	FOXE3	c.720C>A	p.Cys240Ter (p.C240X)	NM_012186.3 M	SNV	P	3 +	4
935371	FOXE3	c.291C>G	p.Ile97Met (p.I97M)	NM_012186.3 M	SNV	P	3 +	4
1428067	FOXE3	c.555dup	p.Phe186fs (p.F186fs)	NM_012186.3 M	Dup	P	3 +	3
1418123	FOXE3	c.632C>A	p.Ser211Ter (p.S211X)	NM_012186.3 M	SNV	P	3 +	3
1076197	FOXE3	c.526_539del	p.Ala176fs (p.A176fs)	NM_012186.3 M	Del	P	3 +	3
1459316	FOXE3	c.343_347del	p.Trp115fs (p.W115fs)	NM_012186.3 M	Del	P	3 +	3
2086066	FOXE3	c.145G>T	p.Gly49Ter (p.G49X)	NM_012186.3 M	SNV	P	3 +	3
960001	FOXE3	c.269G>T	p.Arg90Leu (p.R90L)	NM_012186.3 M	SNV	VUS	3 +	3
839342	FOXE3	c.181del	p.Arg61fs (p.R61fs)	NM_012186.3 M	Del	LP	3 +	3
848730	FOXE3	c.703C>T	p.Pro235Ser (p.P235S)	NM_012186.3 M	SNV	LB	3 +	2
945230	FOXE3	c.562TACGCGCCC[3]	p.188YAP[3]	NM_012186.3 M	MS	VUS	3 +	2
1385646	FOXE3	c.854C>A	p.Pro285His (p.P285H)	NM_012186.3 M	SNV	VUS	3 +	2
617853	FOXE3	c.334C>T	p.Pro112Ser (p.P112S)	NM_012186.3 M	SNV	LB	5 +	2
372169	FOXE3	c.351C>G	p.Asn117Lys (p.N117K)	NM_012186.3 M	SNV	P	4 +	2
30157	FOXE3	c.959G>T	p.Ter320Leu (p.X320L)	NM_012186.3 M	SNV	P	1 +	2
427852	FOXE3	c.232G>A	p.Ala78Thr (p.A78T)	NM_012186.3 M	SNV	P	3 +	2
286610	FOXE3	c.898A>G	p.Ser300Gly (p.S300G)	NM_012186.3 M	SNV	LB	3 +	2

208 Results, 20 per Page

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