List of variants reported as pathogenic for Charlevoix-Saguenay spastic ataxia by Paris Brain Institute, Inserm - ICM

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	rs762947018	0.00001
NM_014363.6(SACS):c.10634_10635del (p.Val3545fs)	rs2137573354
NM_014363.6(SACS):c.10932dup (p.Leu3645fs)	rs2137570842
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)	rs1400601705
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	rs565203731
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)	rs2137561906
NM_014363.6(SACS):c.12268C>A (p.His4090Asn)	rs2137559913
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)	rs2137557832
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)	rs1057517294
NM_014363.6(SACS):c.1358del (p.Gly453fs)	rs2137722808
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)	rs2137625077
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)	rs764992284
NM_014363.6(SACS):c.4835dup (p.Phe1614fs)	rs2137624079
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)	rs754439135
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)	rs2137616027
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)	rs761655321
NM_014363.6(SACS):c.6172del (p.Ser2058fs)	rs1214399996
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)	rs1868700605
NM_014363.6(SACS):c.699del (p.Asp235fs)	rs1415870785
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)	rs771583552
NM_014363.6(SACS):c.8227del (p.His2743fs)	rs2137593965
NM_014363.6(SACS):c.914_915del (p.Thr305fs)	rs2137726985

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