ClinVar Miner

List of variants reported as likely pathogenic for cerebellar disorder by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter) rs750743855 0.00001
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) rs1559718601
NM_002739.5(PRKCG):c.347A>G (p.His116Arg) rs2068657131

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