ClinVar Miner

List of variants studied for Infantile cerebellar-retinal degeneration by Genome-Nilou Lab

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.836-54T>C rs203320 0.39646
NM_001098.3(ACO2):c.836-118C>T rs9619974 0.36682
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_001098.3(ACO2):c.1032+17C>T rs203319 0.33591
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_001098.3(ACO2):c.174-52G>T rs2076199

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