ClinVar Miner

List of variants studied for Early-onset parkinsonism-intellectual disability syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_171998.4(RAB39B):c.215+3G>A rs377143859 0.00006
NC_000023.11:g.(155246216_?)_(?_155288781)del
NC_000023.11:g.155264167_155265545del
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys) rs587777874
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg) rs864309527

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