List of variants in gene PNPT1 reported as pathogenic for cerebellar ataxia

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	rs143712760	0.00026
NM_033109.5(PNPT1):c.2014-3C>G	rs748445058
NM_033109.5(PNPT1):c.2069+3A>G	rs2104026165

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