List of variants reported as pathogenic for Charlevoix-Saguenay spastic ataxia by PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)	rs202199411	0.00003
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	rs281865118	0.00002
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	rs1057517250	0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)	rs281865120	0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)	rs1160357920	0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)	rs773182375	0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)	rs374128662	0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs)	rs281865117	0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	rs886041949	0.00001
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)	rs755186798
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)	rs779338945
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)	rs1400601705
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)	rs781491486
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)	rs1057516365
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)	rs1555249425
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)	rs1057517294
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter)	rs1285760809
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)	rs1383333220
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	rs752059006
NM_014363.6(SACS):c.4060C>T (p.Gln1354Ter)
NM_014363.6(SACS):c.4108C>T (p.Gln1370Ter)
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.6186dup (p.Pro2063fs)	rs2137611917
NM_014363.6(SACS):c.6290del (p.Cys2097fs)	rs1868755540
NM_014363.6(SACS):c.6663del (p.Lys2221fs)	rs1555251699
NM_014363.6(SACS):c.699del (p.Asp235fs)	rs1415870785
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)	rs1555251539
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)	rs786204750
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)	rs1555250557
Single allele

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