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Mutation Direct

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Gene: KCNK3 & Disease: PPH4, 139 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
60482	KCNK3	c.544G>A	p.Glu182Lys (p.E182K)	NM_002246.3 M	SNV	P	1 +	3
962756	KCNK3	c.202C>T	p.Arg68Cys (p.R68C)	NM_002246.3 M	SNV	VUS	1 +	2
952122	KCNK3	c.827G>A	p.Gly276Asp (p.G276D)	NM_002246.3 M	SNV	VUS	1 +	2
648112	KCNK3	c.618G>A	p.Val206= (p.V206=)	NM_002246.3 M	SNV	LB	1 +	2
60479	KCNK3	c.608G>A	p.Gly203Asp (p.G203D)	NM_002246.3 M	SNV	P	2 +	1
60481	KCNK3	c.661G>C	p.Val221Leu (p.V221L)	NM_002246.3 M	SNV	P	1 +	1
60483	KCNK3	c.575A>G	p.Tyr192Cys (p.Y192C)	NM_002246.3 M	SNV	P	1 +	1
60480	KCNK3	c.289G>A	p.Gly97Arg (p.G97R)	NM_002246.3 M	SNV	P	1 +	1
426049	KCNK3	c.23C>A	p.Thr8Lys (p.T8K)	NM_002246.3 M	SNV	P	1 +	1
2030221	KCNK3	c.1068G>A	p.Thr356= (p.T356=)	NM_002246.3 M	SNV	LB	1 +	1
1348771	KCNK3	c.1067C>G	p.Thr356Arg (p.T356R)	NM_002246.3 M	SNV	VUS	1 +	1
1622703	KCNK3	c.249C>T	p.Ser83= (p.S83=)	NM_002246.3 M	SNV	LB	1 +	1
576185	KCNK3	c.1169G>A	p.Arg390His (p.R390H)	NM_002246.3 M	SNV	VUS	1 +	1
474320	KCNK3	c.366C>T	p.Leu122= (p.L122=)	NM_002246.3 M	SNV	LB	1 +	1
1519940	KCNK3	c.254A>G	p.Tyr85Cys (p.Y85C)	NM_002246.3 M	SNV	VUS	1 +	1
1161041	KCNK3	c.864G>C	p.Thr288= (p.T288=)	NM_002246.3 M	SNV	LB	1 +	1
864183	KCNK3	c.1067C>A	p.Thr356Lys (p.T356K)	NM_002246.3 M	SNV	VUS	1 +	1
1939909	KCNK3	c.220G>T	p.Ala74Ser (p.A74S)	NM_002246.3 M	SNV	VUS	1 +	1
1673216	KCNK3	c.1032C>T	p.His344= (p.H344=)	NM_002246.3 M	SNV	LB	1 +	0
2065413	KCNK3	c.283+20G>A	--	NM_002246.3 M	SNV	LB	1 +	0

139 Results, 20 per Page

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