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Mutation Direct

Effortless mutation search and display tool

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Gene: KCNU1 & Disease: SPGF79, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2443714	KCNU1	c.1237A>T	p.Ile413Phe (p.I413F)	NM_001031836.3 M	SNV	P	1 +	1
2443715	KCNU1	c.2144A>G	p.His715Arg (p.H715R)	NM_001031836.3 M	SNV	P	1 +	1
2443716	KCNU1	c.1295+3A>C	--	NM_001031836.3 M	SNV	P	1 +	1

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