List of variants in gene APRT reported as likely pathogenic for amino acid metabolism disease

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000485.3(APRT):c.188G>A (p.Gly63Asp)	rs1909091672
NM_000485.3(APRT):c.200G>A (p.Arg67Gln)	rs762509151
NM_000485.3(APRT):c.280_286del (p.Gly94fs)	rs776240467
NM_000485.3(APRT):c.389T>C (p.Leu130Pro)	rs1909056519
NM_000485.3(APRT):c.439C>T (p.Gln147Ter)	rs745872435
NM_000485.3(APRT):c.524C>T (p.Ser175Phe)	rs1186881962
NM_000485.3(APRT):c.84C>A (p.Asp28Glu)	rs1344826245

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