ClinVar Miner

List of variants in gene LOC109504727, LOC130065308, NOP56 studied for autosomal dominant cerebellar ataxia

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)
NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]
NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?] rs1555779353

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