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Gene: KCNJ11 & Disease: HHF2, 529 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8678	KCNJ11	c.67A>G	p.Lys23Glu (p.K23E)	NM_000525.4 M	SNV	LB	7 +	35
	KCNJ11	c.-24A>G	--	NM_001377296.1	SNV	LB	7 +	35
	KCNJ11	c.-16-179A>G	--	NM_001166290.2	SNV	LB	7 +	35
	KCNJ11	c.-16-179A>G	--	NM_001377297.1	SNV	LB	7 +	35
8683	KCNJ11	c.902G>A	p.Arg301His (p.R301H)	NM_000525.4 M	SNV	P	6 +	16
	KCNJ11	c.641G>A	p.Arg214His (p.R214H)	NM_001166290.2	SNV	P	6 +	16
	KCNJ11	c.641G>A	p.Arg214His (p.R214H)	NM_001377296.1	SNV	P	6 +	16
	KCNJ11	c.641G>A	p.Arg214His (p.R214H)	NM_001377297.1	SNV	P	6 +	16
557416	KCNJ11	c.100C>T	p.Arg34Cys (p.R34C)	NM_000525.4 M	SNV	P	5 +	11
	KCNJ11	c.-16-146C>T	--	NM_001166290.2	SNV	P	5 +	11
	KCNJ11	c.-16-146C>T	--	NM_001377297.1	SNV	P	5 +	11
	KCNJ11	c.-17+26C>T	--	NM_001377296.1	SNV	P	5 +	11
551187	KCNJ11	c.560C>T	p.Ala187Val (p.A187V)	NM_000525.4 M	SNV	P	5 +	10
553627	KCNJ11	c.-54C>T	--	NM_000525.4 M	SNV	VUS	8 +	10
551187	KCNJ11	c.299C>T	p.Ala100Val (p.A100V)	NM_001166290.2	SNV	P	5 +	10
	KCNJ11	c.299C>T	p.Ala100Val (p.A100V)	NM_001377296.1	SNV	P	5 +	10
	KCNJ11	c.299C>T	p.Ala100Val (p.A100V)	NM_001377297.1	SNV	P	5 +	10
553627	KCNJ11	c.-16-299C>T	--	NM_001166290.2	SNV	VUS	8 +	10
	KCNJ11	c.-16-299C>T	--	NM_001377297.1	SNV	VUS	8 +	10
	KCNJ11	c.-75-69C>T	--	NM_001377296.1	SNV	VUS	8 +	10

529 Results, 20 per Page

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