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Gene: SPG11 & Disease: Spastic Paraparesis, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
374112	SPG11	c.5381T>C	p.Leu1794Pro (p.L1794P)	NM_025137.4 M	SNV	P	5 +	6
374112	SPG11	c.5381T>C	p.Leu1794Pro (p.L1794P)	NM_001160227.2	SNV	P	5 +	6
374071	SPG11	c.3785G>T	p.Gly1262Val (p.G1262V)	NM_025137.4 M	SNV	LP	3 +	2
374071	SPG11	c.3785G>T	p.Gly1262Val (p.G1262V)	NM_001160227.2	SNV	LP	3 +	2

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