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Gene: MCM7 & Disease: Enophthalmos, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1173069	MCM7	c.776G>C	p.Gly259Ala (p.G259A)	NM_005916.5 M	SNV	P	7 +	1
	MCM7	c.248G>C	p.Gly83Ala (p.G83A)	NM_001278595.2	SNV	P	7 +	1
	MCM7	c.248G>C	p.Gly83Ala (p.G83A)	NM_182776.3	SNV	P	7 +	1
1804007	MCM7	c.133C>T	p.Gln45Ter (p.Q45X)	NM_005916.5 M	SNV	P	6 +	0
	MCM7	c.-471C>T	--	NM_001278595.2	SNV	P	6 +	0
	MCM7	c.-471C>T	--	NM_182776.3	SNV	P	6 +	0

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