ClinVar Miner

List of variants reported as pathogenic for cerebellar disorder by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter) rs778445117 0.00002
NM_001382391.1(CSPP1):c.2968+1G>T rs587777142 0.00001
NM_005861.4(STUB1):c.885dup (p.Glu296Ter) rs1567283195
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538

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