List of variants in gene SACS reported as likely pathogenic for hereditary spastic paraplegia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)	rs863224916	0.00001
NM_014363.5:c.[1640C>T;1634G>T]
NM_014363.6(SACS):c.4117G>T (p.Ala1373Ser)	rs61326562
NM_014363.6(SACS):c.4118C>A (p.Ala1373Glu)	rs61548169
NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter)	rs2137590717
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)	rs767871841
NM_014363.6(SACS):c.9081dup (p.Asp3028Ter)	rs2137586930

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