ClinVar Miner

List of variants reported as likely pathogenic for Charlevoix-Saguenay spastic ataxia by Solve-RD Consortium

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)	rs1593133395
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)	rs765361868
NM_014363.6(SACS):c.815G>A (p.Arg272His)	rs745907077

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