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Gene: MATN4 & Disease: HPE1, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1342534	MATN4	c.1688-7C>A	--	NM_001393530.1 M	SNV	VUS	2 +	0
183295	MATN4	c.515G>C	p.Gly172Ala (p.G172A)	NM_001393530.1 M	SNV	LP	4 +	0
1342534	MATN4	c.*35C>A	--	NM_001393531.1	SNV	VUS	2 +	0
	MATN4	c.1688-7C>A	--	NM_003833.5	SNV	VUS	2 +	0
	MATN4	c.1442-7C>A	--	NM_030592.4	SNV	VUS	2 +	0
	MATN4	c.1565-7C>A	--	NM_030590.4	SNV	VUS	2 +	0
183295	MATN4	c.515G>C	p.Gly172Ala (p.G172A)	NM_001393531.1	SNV	LP	4 +	0
	MATN4	c.515G>C	p.Gly172Ala (p.G172A)	NM_003833.5	SNV	LP	4 +	0
	MATN4	c.515G>C	p.Gly172Ala (p.G172A)	NM_030590.4	SNV	LP	4 +	0
	MATN4	c.515G>C	p.Gly172Ala (p.G172A)	NM_030592.4	SNV	LP	4 +	0

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