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Gene: SLC26A2 & Disease: EDM4, 606 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4089	SLC26A2	c.835C>T	p.Arg279Trp (p.R279W)	NM_000112.4 M	SNV	P	7 +	23
4098	SLC26A2	c.1957T>A	p.Cys653Ser (p.C653S)	NM_000112.4 M	SNV	P	7 +	12
4092	SLC26A2	c.532C>T	p.Arg178Ter (p.R178X)	NM_000112.4 M	SNV	P	6 +	10
964035	SLC26A2	c.138dup	p.Gln47fs (p.Q47fs)	NM_000112.4 M	Dup	P	4 +	8
4097	SLC26A2	c.-26+2T>C	--	NM_000112.4 M	SNV	P	6 +	7
65558	SLC26A2	c.1011TGT[3]	p.Val341Del (p.V341del)	NM_000112.4 M	MS	P	4 +	7
65558	SLC26A2	c.1020_1022del	--	NM_000112.4 M	MS	P	4 +	7
371777	SLC26A2	c.485_486del	p.Val162fs (p.V162fs)	NM_000112.4 M	MS	P	4 +	7
436750	SLC26A2	c.2124_2125dup	p.Phe709fs (p.F709fs)	NM_000112.4 M	MS	P	4 +	6
56014	SLC26A2	c.1394del	p.Leu465fs (p.L465fs)	NM_000112.4 M	Del	P	4 +	6
56027	SLC26A2	c.700-1G>C	--	NM_000112.4 M	SNV	P	4 +	6
971526	SLC26A2	c.15_19del	p.Ser5fs (p.S5fs)	NM_000112.4 M	Del	P	4 +	6
4094	SLC26A2	c.2033G>T	p.Gly678Val (p.G678V)	NM_000112.4 M	SNV	P	4 +	6
555059	SLC26A2	c.2097T>A	p.Tyr699Ter (p.Y699X)	NM_000112.4 M	SNV	P	1 +	5
1476810	SLC26A2	c.2143G>A	p.Ala715Thr (p.A715T)	NM_000112.4 M	SNV	LP	4 +	5
1702483	SLC26A2	c.1487_1488insGGCG	p.Lys497fs (p.K497fs)	NM_000112.4 M	Ins	P	5 +	5
1473798	SLC26A2	c.1544G>A	p.Trp515Ter (p.W515X)	NM_000112.4 M	SNV	LP	4 +	5
4087	SLC26A2	c.1724delA	--	NM_000112.4 M	Del	P	5 +	5
4087	SLC26A2	c.1724del	p.Lys575fs (p.K575fs)	NM_000112.4 M	Del	P	5 +	5
4091	SLC26A2	c.2144C>T	p.Ala715Val (p.A715V)	NM_000112.4 M	SNV	P	4 +	5

606 Results, 20 per Page

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