ClinVar Miner

List of variants studied for cerebellar ataxia by DASA

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) rs587777141
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220
NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs) rs768820873

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