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Gene: SMOC2 & Disease: DTDP1, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
225685	SMOC2	c.648T>A	p.Cys216Ter (p.C216X)	NM_001166412.2 M	SNV	P	1 +	1
30657	SMOC2	c.84+1G>T	--	NM_001166412.2 M	SNV	P	1 +	1
225685	SMOC2	c.681T>A	p.Cys227Ter (p.C227X)	NM_022138.3	SNV	P	1 +	1
30657	SMOC2	c.84+1G>T	--	NM_022138.3	SNV	P	1 +	1
1679408	SMOC2	c.842G>A	p.Cys281Tyr (p.C281Y)	NM_001166412.2 M	SNV	VUS	1 +	0
1027789	SMOC2	c.400G>A	p.Val134Ile (p.V134I)	NM_001166412.2 M	SNV	VUS	1 +	0
1679408	SMOC2	c.875G>A	p.Cys292Tyr (p.C292Y)	NM_022138.3	SNV	VUS	1 +	0
1027789	SMOC2	c.400G>A	p.Val134Ile (p.V134I)	NM_022138.3	SNV	VUS	1 +	0

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