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Gene: ZNF513 & Disease: RP58, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
28	ZNF513	c.1015T>C	p.Cys339Arg (p.C339R)	NM_144631.6 M	SNV	P	1 +	2
167864	ZNF513	c.781G>A	p.Val261Met (p.V261M)	NM_144631.6 M	SNV	LB	3 +	2
28	ZNF513	c.829T>C	p.Cys277Arg (p.C277R)	NM_001201459.2	SNV	P	1 +	2
167864	ZNF513	c.595G>A	p.Val199Met (p.V199M)	NM_001201459.2	SNV	LB	3 +	2
930689	ZNF513	c.279_283del	p.Ala94fs (p.A94fs)	NM_144631.6 M	Del	LP	1 +	0
898692	ZNF513	c.-96G>A	--	NM_144631.6 M	SNV	VUS	1 +	0
930689	ZNF513	c.93_97del	p.Ala32fs (p.A32fs)	NM_001201459.2	Del	LP	1 +	0

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