ClinVar Miner

List of variants in gene RAB39B reported as pathogenic for Early-onset parkinsonism-intellectual disability syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys)	rs587777874
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg)	rs864309527

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