ClinVar Miner

List of variants studied for cerebellar ataxia by Human Genetics Bochum, Ruhr University Bochum

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_005861.4(STUB1):c.728C>T (p.Pro243Leu)
NM_152703.5(SAMD9L):c.4140dup (p.Gln1381fs) rs745823605

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