ClinVar Miner

List of variants reported as benign for Charlevoix-Saguenay spastic ataxia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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.10338G>A (p.Gln3446=)	rs2737701	0.98600
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)	rs2031640	0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=)	rs1536365	0.08543

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