ClinVar Miner

List of variants in gene combination JMJD8, STUB1 reported as uncertain significance for autosomal recessive spinocerebellar ataxia 16

Included ClinVar conditions (2):
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_001005920.4(JMJD8):c.*1009T>C rs2151505130
NM_001005920.4(JMJD8):c.*903G>C rs1567281056
NM_005861.4(STUB1):c.612+4_612+46del rs2151505435

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