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Gene: PFN1 & Disease: ALS18, 17 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1676224	PFN1	c.318_319dup	p.Asp107fs (p.D107fs)	NM_005022.4 M	Dup	LP	1 +	5
	PFN1	c.318_319dupTG	--	NM_005022.4 M	Dup	LP	1 +	5
	PFN1	c.318_319dup	p.Asp107fs (p.D107fs)	NM_001375991.1	Dup	LP	1 +	5
37037	PFN1	c.350A>G	p.Glu117Gly (p.E117G)	NM_005022.4 M	SNV	P	1 +	3
37037	PFN1	c.*434A>G	--	NM_001375991.1	SNV	P	1 +	3
259607	PFN1	c.334C>T	p.Leu112= (p.L112=)	NM_005022.4 M	SNV	LB	1 +	2
1803758	PFN1	c.280G>T	p.Gly94Cys (p.G94C)	NM_005022.4 M	SNV	VUS	1 +	2
259607	PFN1	c.*418C>T	--	NM_001375991.1	SNV	LB	1 +	2
1803758	PFN1	c.280G>T	p.Gly94Cys (p.G94C)	NM_001375991.1	SNV	VUS	1 +	2
37034	PFN1	c.211T>G	p.Cys71Gly (p.C71G)	NM_005022.4 M	SNV	P	1 +	1
37035	PFN1	c.341T>C	p.Met114Thr (p.M114T)	NM_005022.4 M	SNV	P	1 +	1
37036	PFN1	c.353G>T	p.Gly118Val (p.G118V)	NM_005022.4 M	SNV	P	1 +	1
1806047	PFN1	c.351A>T	p.Glu117Asp (p.E117D)	NM_005022.4 M	SNV	LB	1 +	1
37034	PFN1	c.211T>G	p.Cys71Gly (p.C71G)	NM_001375991.1	SNV	P	1 +	1
37035	PFN1	c.*425T>C	--	NM_001375991.1	SNV	P	1 +	1
37036	PFN1	c.*437G>T	--	NM_001375991.1	SNV	P	1 +	1
1806047	PFN1	c.*435A>T	--	NM_001375991.1	SNV	LB	1 +	1

17 Results, 20 per Page

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