ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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)
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187

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