ClinVar Miner

List of variants studied for cerebellar degeneration by Institute of Human Genetics, University Hospital Muenster

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001377405.1(ATXN7):c.2120G>A (p.Arg707His) rs368917711 0.00004
NM_016373.4(WWOX):c.172+1G>C rs1377640182 0.00001
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366

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