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Gene: LEMD3 & Disease: Osteopoikilosis, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2752	LEMD3	c.457C>T	p.Gln153Ter (p.Q153X)	NM_014319.5 M	SNV	P	1 +	1
2757	LEMD3	c.2154dup	p.Ala719fs (p.A719fs)	NM_014319.5 M	Dup	P	2 +	1
2752	LEMD3	c.457C>T	p.Gln153Ter (p.Q153X)	NM_001167614.2	SNV	P	1 +	1
2757	LEMD3	c.2151dup	p.Ala718fs (p.A718fs)	NM_001167614.2	Dup	P	2 +	1

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