ClinVar Miner

List of variants reported as uncertain significance for cerebellar ataxia by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

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_001020658.2(PUM1):c.2420C>T (p.Pro807Leu) rs779524509
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp) rs1568446845
NM_001130698.2(TRPC3):c.2216T>C (p.Leu739Pro)

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