ClinVar Miner

List of variants studied for Charlevoix-Saguenay spastic ataxia by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.11984_11986dup (p.Leu3995_Cys3996insLeu)
NM_014363.6(SACS):c.2387del (p.Leu796fs)
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) rs1192682879

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