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Mutation Direct

Effortless mutation search and display tool

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Gene: KIF3B & Disease: RP89, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
973172	KIF3B	c.1568T>C	p.Leu523Pro (p.L523P)	NM_004798.4 M	SNV	P	1 +	1
973171	KIF3B	c.748G>C	p.Glu250Gln (p.E250Q)	NM_004798.4 M	SNV	P	1 +	1
2578447	KIF3B	c.1481del	p.Gln494fs (p.Q494fs)	NM_004798.4 M	Del	LB	1 +	1

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