ClinVar Miner

List of variants studied for cerebellar degeneration by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs) rs1827118960

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