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Gene: MATN3 & Disease: SEMDBCD, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
65664	MATN3	c.359C>T	p.Thr120Met (p.T120M)	NM_002381.5 M	SNV	P	3 +	5
65664	MATN3	c.[359C>T]	--	NM_002381.5 M	SNV	P	3 +	5
7544	MATN3	c.910T>A	p.Cys304Ser (p.C304S)	NM_002381.5 M	SNV	P	1 +	2
593099	MATN3	c.526G>T	p.Val176Leu (p.V176L)	NM_002381.5 M	SNV	VUS	3 +	0

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