List of variants reported as pathogenic for Charlevoix-Saguenay spastic ataxia by Counsyl

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	rs281865118	0.00002
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)	rs281865120	0.00001
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)	rs1400601705
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)	rs1057517311
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)	rs1485209013
NM_014363.6(SACS):c.6172del (p.Ser2058fs)	rs1214399996
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)	rs766711286
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)	rs1175545518

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