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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.8844del (p.Ile2949fs)	rs281865117	0.00001
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)	rs1259615333
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter)	rs1246013998
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)	rs2137615500
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter)	rs1555251553

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