ClinVar Miner

List of variants studied for cerebellar degeneration by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile) rs1002376493
NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met) rs2106492941
NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs) rs754008719

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