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Gene: KCNH1 & Disease: ZLS1, 45 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
279981	KCNH1	c.1070G>A	p.Arg357Gln (p.R357Q)	NM_172362.3 M	SNV	P	2 +	5
279981	KCNH1	c.989G>A	p.Arg330Gln (p.R330Q)	NM_002238.4	SNV	P	2 +	5
162520	KCNH1	c.1480A>G	p.Ile494Val (p.I494V)	NM_172362.3 M	SNV	P	2 +	4
162520	KCNH1	c.1399A>G	p.Ile467Val (p.I467V)	NM_002238.4	SNV	P	2 +	4
183415	KCNH1	c.1123G>A	p.Gly375Arg (p.G375R)	NM_172362.3 M	SNV	P	1 +	2
183416	KCNH1	c.1135C>G	p.Leu379Val (p.L379V)	NM_172362.3 M	SNV	P	1 +	2
183418	KCNH1	c.1486G>A	p.Gly496Arg (p.G496R)	NM_172362.3 M	SNV	P	2 +	2
183415	KCNH1	c.1042G>A	p.Gly348Arg (p.G348R)	NM_002238.4	SNV	P	1 +	2
183416	KCNH1	c.1054C>G	p.Leu352Val (p.L352V)	NM_002238.4	SNV	P	1 +	2
183418	KCNH1	c.1405G>A	p.Gly469Arg (p.G469R)	NM_002238.4	SNV	P	2 +	2
2499611	KCNH1	c.1123G>C	p.Gly375Arg (p.G375R)	NM_172362.3 M	SNV	P	1 +	1
2499611	KCNH1	c.1042G>C	p.Gly348Arg (p.G348R)	NM_002238.4	SNV	P	1 +	1
1034355	KCNH1	c.1559G>A	p.Arg520Gln (p.R520Q)	NM_172362.3 M	SNV	LP	1 +	0
1034356	KCNH1	c.2859_2861delinsTAC	p.Glu953_Ile954delinsAspThr	NM_172362.3 M	Indel	VUS	1 +	0
1243506	KCNH1	c.2136T>C	p.Asp712= (p.D712=)	NM_172362.3 M	SNV	B	2 +	0
1706444	KCNH1	c.2658G>C	p.Lys886Asn (p.K886N)	NM_172362.3 M	SNV	VUS	1 +	0
778789	KCNH1	c.2768A>C	p.Gln923Pro (p.Q923P)	NM_172362.3 M	SNV	LB	2 +	0
930362	KCNH1	c.1958C>T	p.Thr653Ile (p.T653I)	NM_172362.3 M	SNV	VUS	1 +	0
1600068	KCNH1	c.2162T>C	p.Met721Thr (p.M721T)	NM_172362.3 M	SNV	LB	2 +	0
930399	KCNH1	c.1717C>T	p.Arg573Cys (p.R573C)	NM_172362.3 M	SNV	VUS	1 +	0

45 Results, 20 per Page

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