List of variants in gene PNPT1 reported as likely pathogenic for cerebellar degeneration

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_033109.5(PNPT1):c.162-2A>C	rs2529627773
NM_033109.5(PNPT1):c.2014-3C>G	rs748445058
NM_033109.5(PNPT1):c.2143C>T (p.Arg715Ter)
NM_033109.5(PNPT1):c.984del (p.Pro329fs)

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