ClinVar Miner

List of variants reported as pathogenic for Charlevoix-Saguenay spastic ataxia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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.11265_11266del (p.Ile3755fs)	rs1400601705
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)	rs775863207
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)	rs1444216187

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