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Gene: RPS23 & Disease: BTDD, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
417763	RPS23	c.200G>A	p.Arg67Lys (p.R67K)	NM_001025.5 M	SNV	P	1 +	1
417764	RPS23	c.358T>A	p.Phe120Ile (p.F120I)	NM_001025.5 M	SNV	P	1 +	1
1327972	RPS23	c.285+33C>G	--	NM_001025.5 M	SNV	B	1 +	0
1030028	RPS23	c.139G>A	p.Ala47Thr (p.A47T)	NM_001025.5 M	SNV	VUS	1 +	0
2578439	RPS23	c.355C>T	p.Arg119Cys (p.R119C)	NM_001025.5 M	SNV	VUS	1 +	0

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