ClinVar Miner

List of variants studied for Charlevoix-Saguenay spastic ataxia by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227

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