List of variants reported as likely pathogenic for adenine phosphoribosyltransferase deficiency by APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000485.3(APRT):c.389T>C (p.Leu130Pro)	rs1909056519
NM_000485.3(APRT):c.524C>T (p.Ser175Phe)	rs1186881962
NM_000485.3(APRT):c.58C>T (p.Pro20Ser)	rs1909160707
NM_000485.3(APRT):c.84C>A (p.Asp28Glu)	rs1344826245

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