ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia, type 1D by Revvity Omics, Revvity

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_005033.3(EXOSC9):c.390G>T (p.Trp130Cys) rs775495786 0.00001

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