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Gene: CEP152 & Disease: Seckel Syndrome, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
517617	CEP152	c.314G>A	p.Trp105Ter (p.W105X)	NM_001194998.2 M	SNV	P	3 +	1
517617	CEP152	c.314G>A	p.Trp105Ter (p.W105X)	NM_014985.4	SNV	P	3 +	1
316414	CEP152	c.3683T>C	p.Met1228Thr (p.M1228T)	NM_001194998.2 M	SNV	VUS	2 +	0
316403	CEP152	c.*231C>T	--	NM_001194998.2 M	SNV	VUS	2 +	0
316414	CEP152	c.3515T>C	p.Met1172Thr (p.M1172T)	NM_014985.4	SNV	VUS	2 +	0
316403	CEP152	c.*231C>T	--	NM_014985.4	SNV	VUS	2 +	0

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