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Gene: KCNJ11 & Disease: NDM, 48 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8666	KCNJ11	c.602G>A	p.Arg201His (p.R201H)	NM_000525.4 M	SNV	P	7 +	34
	KCNJ11	c.341G>A	p.Arg114His (p.R114H)	NM_001166290.2	SNV	P	7 +	34
	KCNJ11	c.341G>A	p.Arg114His (p.R114H)	NM_001377296.1	SNV	P	7 +	34
	KCNJ11	c.341G>A	p.Arg114His (p.R114H)	NM_001377297.1	SNV	P	7 +	34
36431	KCNJ11	c.149G>A	p.Arg50Gln (p.R50Q)	NM_000525.4 M	SNV	P	3 +	21
	KCNJ11	c.-16-97G>A	--	NM_001166290.2	SNV	P	3 +	21
	KCNJ11	c.-16-97G>A	--	NM_001377297.1	SNV	P	3 +	21
	KCNJ11	c.-17+75G>A	--	NM_001377296.1	SNV	P	3 +	21
158682	KCNJ11	c.679G>A	p.Glu227Lys (p.E227K)	NM_000525.4 M	SNV	P	5 +	17
	KCNJ11	c.418G>A	p.Glu140Lys (p.E140K)	NM_001166290.2	SNV	P	5 +	17
	KCNJ11	c.418G>A	p.Glu140Lys (p.E140K)	NM_001377296.1	SNV	P	5 +	17
	KCNJ11	c.418G>A	p.Glu140Lys (p.E140K)	NM_001377297.1	SNV	P	5 +	17
8668	KCNJ11	c.601C>T	p.Arg201Cys (p.R201C)	NM_000525.4 M	SNV	P	8 +	14
	KCNJ11	c.340C>T	p.Arg114Cys (p.R114C)	NM_001166290.2	SNV	P	8 +	14
	KCNJ11	c.340C>T	p.Arg114Cys (p.R114C)	NM_001377296.1	SNV	P	8 +	14
	KCNJ11	c.340C>T	p.Arg114Cys (p.R114C)	NM_001377297.1	SNV	P	8 +	14
8667	KCNJ11	c.175G>A	p.Val59Met (p.V59M)	NM_000525.4 M	SNV	P	6 +	13
	KCNJ11	c.-16-71G>A	--	NM_001166290.2	SNV	P	6 +	13
	KCNJ11	c.-16-71G>A	--	NM_001377297.1	SNV	P	6 +	13
	KCNJ11	c.-16-71G>A	--	NM_001377296.1	SNV	P	6 +	13

48 Results, 20 per Page

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