ClinVar Miner

List of variants reported as pathogenic for cerebellar degeneration by DASA

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) rs587777141
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220

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