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Gene: DPM3 & Disease: MDDGB15, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
694278	DPM3	c.254T>A	p.Leu85Ter (p.L85X)	NM_153741.2 M	SNV	P	2 +	1
694292	DPM3	c.124C>G	p.Pro42Ala (p.P42A)	NM_153741.2 M	SNV	P	2 +	1
694278	DPM3	c.344T>A	p.Leu115Ter (p.L115X)	NM_018973.4	SNV	P	2 +	1
694292	DPM3	c.214C>G	p.Pro72Ala (p.P72A)	NM_018973.4	SNV	P	2 +	1

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