ClinVar Miner

List of variants reported as likely pathogenic for cerebellar degeneration by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921 0.00001
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln) rs2135526204
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs) rs1555250395

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