ClinVar Miner

List of variants reported as pathogenic for Pontocerebellar hypoplasia, type 1D by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026

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