List of variants reported as pathogenic for Hereditary spastic paraplegia 55 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)	rs397514539	0.00001
NM_152269.5(MTRFR):c.282+2T>A	rs587777668
NM_152269.5(MTRFR):c.346del (p.Lys115_Val116insTer)	rs398122972
NM_152269.5(MTRFR):c.413_417del (p.Lys138fs)	rs587777667
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)	rs398122365

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