ClinVar Miner

List of variants reported as likely pathogenic for cerebellar degeneration by Centogene AG - the Rare Disease Company

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr) rs2122976509
NM_005861.4(STUB1):c.807dup (p.Val270fs) rs2151507049
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro) rs2039524843
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg) rs2145946065
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572

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