List of variants reported as uncertain significance for Pontocerebellar hypoplasia, type 1D

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005033.3(EXOSC9):c.538C>T (p.Arg180Cys)	rs202225797	0.00007
NM_005033.3(EXOSC9):c.390G>T (p.Trp130Cys)	rs775495786	0.00001
NM_005033.3(EXOSC9):c.545C>T (p.Pro182Leu)	rs755032675	0.00001
NM_005033.3(EXOSC9):c.97A>G (p.Arg33Gly)

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