ClinVar Miner

List of variants reported as pathogenic for Charlevoix-Saguenay spastic ataxia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):

Charlevoix-Saguenay spastic ataxia

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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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.5151dup (p.Ser1718fs)	rs754439135
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)	rs1175545518

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