ClinVar Miner

List of variants reported as pathogenic for Charlevoix-Saguenay spastic ataxia by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.10644del (p.Phe3548fs)	rs1555250160
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)	rs1360298758
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter)	rs1555252345

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