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Gene: PFN1 & Disease: ALS1, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1343323	PFN1	c.86C>T	p.Pro29Leu (p.P29L)	NM_005022.4 M	SNV	VUS	1 +	2
1343323	PFN1	c.86C>T	p.Pro29Leu (p.P29L)	NM_001375991.1	SNV	VUS	1 +	2
873277	PFN1	c.37G>A	p.Ala13Thr (p.A13T)	NM_005022.4 M	SNV	VUS	1 +	1
873277	PFN1	c.37G>A	p.Ala13Thr (p.A13T)	NM_001375991.1	SNV	VUS	1 +	1

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