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Gene: KCNE2 & Disease: LQT1, 19 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6053	KCNE2	c.161T>C	p.Met54Thr (p.M54T)	NM_172201.2 M	SNV	P	3 +	22
67619	KCNE2	c.29C>T	p.Thr10Met (p.T10M)	NM_172201.2 M	SNV	LB	5 +	18
67614	KCNE2	c.229C>T	p.Arg77Trp (p.R77W)	NM_172201.2 M	SNV	LB	5 +	9
67623	KCNE2	c.80G>A	p.Arg27His (p.R27H)	NM_172201.2 M	SNV	LB	5 +	5
67616	KCNE2	c.230G>A	p.Arg77Gln (p.R77Q)	NM_172201.2 M	SNV	LB	3 +	3
67611	KCNE2	c.193G>A	p.Val65Met (p.V65M)	NM_172201.2 M	SNV	VUS	3 +	2
67618	KCNE2	c.281A>G	p.Glu94Gly (p.E94G)	NM_172201.2 M	SNV	VUS	3 +	2
67612	KCNE2	c.193G>C	p.Val65Leu (p.V65L)	NM_172201.2 M	SNV	VUS	4 +	1
67622	KCNE2	c.59T>A	p.Ile20Asn (p.I20N)	NM_172201.2 M	SNV	VUS	2 +	1
339713	KCNE2	c.-121C>T	--	NM_172201.2 M	SNV	VUS	6 +	1
339718	KCNE2	c.153G>T	p.Leu51= (p.L51=)	NM_172201.2 M	SNV	LB	4 +	1
190793	KCNE2	c.-13+5G>A	--	NM_172201.2 M	SNV	VUS	4 +	1
6056	KCNE2	c.178T>C	p.Phe60Leu (p.F60L)	NM_172201.2 M	SNV	P	2 +	1
339714	KCNE2	c.-85G>A	--	NM_172201.2 M	SNV	LB	4 +	0
339715	KCNE2	c.-80C>T	--	NM_172201.2 M	SNV	VUS	4 +	0
339716	KCNE2	c.-79G>A	--	NM_172201.2 M	SNV	LB	4 +	0
339717	KCNE2	c.-52G>A	--	NM_172201.2 M	SNV	LB	4 +	0
339719	KCNE2	c.*62G>A	--	NM_172201.2 M	SNV	B	4 +	0
339720	KCNE2	c.*240G>C	--	NM_172201.2 M	SNV	VUS	4 +	0

19 Results, 20 per Page

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