List of variants reported as likely pathogenic for Charlevoix-Saguenay spastic ataxia by Revvity Omics, Revvity

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)	rs1057517123
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	rs752059006
NM_014363.6(SACS):c.2870del (p.Pro957fs)	rs1057516624
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)	rs1057516779
NM_014363.6(SACS):c.4730dup (p.Met1578fs)
NM_014363.6(SACS):c.5692G>T (p.Glu1898Ter)	rs2137616679
NM_014363.6(SACS):c.6767_6794del (p.Leu2256fs)	rs2137606577
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs)	rs2137582027

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