List of variants reported as pathogenic for Charlevoix-Saguenay spastic ataxia by Medical Genetics Laboratory, Tarbiat Modares University

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)	rs775059063	0.00004
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	rs281865118	0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	rs750732115	0.00002
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)	rs1360298758
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)	rs2137636957
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)	rs144267558
NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter)	rs1213203489
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)	rs2137580127

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