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

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

Total variants: 6

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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.634C>T (p.Arg212Ter)	rs778875319	0.00001
NM_005033.3(EXOSC9):c.151G>C (p.Gly51Arg)	rs2149033494
NM_005033.3(EXOSC9):c.239T>G (p.Leu80Arg)	rs781301648
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter)	rs372318863
NM_005033.3(EXOSC9):c.484dup (p.Arg162fs)	rs1726969482

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