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Gene: MMP9 & Disease: MANDP2, 60 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
338548	MMP9	c.649+3G>T	--	NM_004994.3 M	SNV	B	1 +	2
338550	MMP9	c.836A>G	p.Gln279Arg (p.Q279R)	NM_004994.3 M	SNV	B	1 +	2
338554	MMP9	c.1174+7G>A	--	NM_004994.3 M	SNV	B	1 +	2
338561	MMP9	c.2082G>A	p.Val694= (p.V694=)	NM_004994.3 M	SNV	B	1 +	2
338562	MMP9	c.*3C>T	--	NM_004994.3 M	SNV	B	1 +	2
338559	MMP9	c.2003G>A	p.Arg668Gln (p.R668Q)	NM_004994.3 M	SNV	B	1 +	2
1035934	MMP9	c.2089G>A	p.Val697Met (p.V697M)	NM_004994.3 M	SNV	VUS	1 +	2
1301672	MMP9	c.80C>T	p.Thr27Ile (p.T27I)	NM_004994.3 M	SNV	VUS	1 +	2
285363	MMP9	c.1821A>C	p.Gly607= (p.G607=)	NM_004994.3 M	SNV	B	1 +	2
283364	MMP9	c.1414C>T	p.Pro472Ser (p.P472S)	NM_004994.3 M	SNV	VUS	1 +	2
773609	MMP9	c.559C>T	p.Leu187Phe (p.L187F)	NM_004994.3 M	SNV	LB	1 +	2
282093	MMP9	c.1721G>C	p.Arg574Pro (p.R574P)	NM_004994.3 M	SNV	B	1 +	2
732688	MMP9	c.2022C>T	p.Cys674= (p.C674=)	NM_004994.3 M	SNV	B	1 +	1
198179	MMP9	c.886G>A	p.Gly296Ser (p.G296S)	NM_004994.3 M	SNV	LB	1 +	1
631874	MMP9	c.1284dup	p.Pro429fs (p.P429fs)	NM_004994.3 M	Dup	LB	1 +	1
631875	MMP9	c.1679G>A	p.Trp560Ter (p.W560X)	NM_004994.3 M	SNV	VUS	1 +	1
631876	MMP9	c.1764G>A	p.Trp588Ter (p.W588X)	NM_004994.3 M	SNV	P	1 +	1
2498120	MMP9	c.929del	p.Gly310fs (p.G310fs)	NM_004994.3 M	Del	LP	1 +	1
782929	MMP9	c.840C>T	p.Asp280= (p.D280=)	NM_004994.3 M	SNV	B	1 +	1
896095	MMP9	c.782A>G	p.Asn261Ser (p.N261S)	NM_004994.3 M	SNV	B	1 +	1

共60个结果, 每页展示20条

Comparison