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Gene: KIAA0753 & Disease: SRTD1, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
428613	KIAA0753	c.970C>T	p.Arg324Ter (p.R324X)	NM_014804.3 M	SNV	P	5 +	3
428613	KIAA0753	c.73C>T	p.Arg25Ter (p.R25X)	NM_001351225.2	SNV	P	5 +	3
428615	KIAA0753	c.943C>T	p.Gln315Ter (p.Q315X)	NM_014804.3 M	SNV	P	4 +	2
428615	KIAA0753	c.46C>T	p.Gln16Ter (p.Q16X)	NM_001351225.2	SNV	P	4 +	2
428614	KIAA0753	c.1271del	p.Pro424fs (p.P424fs)	NM_014804.3 M	Del	P	4 +	1
558755	KIAA0753	c.810C>T	p.Tyr270= (p.Y270=)	NM_014804.3 M	SNV	P	4 +	1
428614	KIAA0753	c.374del	p.Pro125fs (p.P125fs)	NM_001351225.2	Del	P	4 +	1
558755	KIAA0753	c.-425C>T	--	NM_001351225.2	SNV	P	4 +	1

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