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Gene: KCNK9 & Disease: BIBARS, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4741	KCNK9	c.706G>A	p.Gly236Arg (p.G236R)	NM_001282534.2 M	SNV	P	1 +	7
372887	KCNK9	c.392G>A	p.Arg131His (p.R131H)	NM_001282534.2 M	SNV	P	1 +	3
397636	KCNK9	c.706G>C	p.Gly236Arg (p.G236R)	NM_001282534.2 M	SNV	P	1 +	2
1304328	KCNK9	c.932C>A	p.Ser311Ter (p.S311X)	NM_001282534.2 M	SNV	VUS	1 +	1
983124	KCNK9	c.391C>T	p.Arg131Cys (p.R131C)	NM_001282534.2 M	SNV	P	1 +	1
982629	KCNK9	c.710C>A	p.Ala237Asp (p.A237D)	NM_001282534.2 M	SNV	P	1 +	1
634574	KCNK9	c.223G>A	p.Gly75Ser (p.G75S)	NM_001282534.2 M	SNV	VUS	1 +	1
989376	KCNK9	c.599T>C	p.Ile200Thr (p.I200T)	NM_001282534.2 M	SNV	VUS	1 +	0
452563	KCNK9	c.25C>G	p.Leu9Val (p.L9V)	NM_001282534.2 M	SNV	LB	1 +	0
1033821	KCNK9	c.467T>C	p.Met156Thr (p.M156T)	NM_001282534.2 M	SNV	VUS	1 +	0

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