List of variants in gene combination PREPL, SLC3A1 reported as likely pathogenic for inborn disorder of amino acid metabolism

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)	rs141944551	0.00009
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser)	rs146963107	0.00004
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)	rs776729515	0.00001
NC_000002.12:g.(?_44280696)_(44346410_?)del
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)	rs368796166
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)	rs775827496
NM_000341.4(SLC3A1):c.1772_1773del (p.Arg591fs)
NM_000341.4(SLC3A1):c.1820del (p.Leu607fs)
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)
NM_000341.4(SLC3A1):c.1993A>T (p.Arg665Ter)
NM_000341.4(SLC3A1):c.2014_2015delinsTA (p.Ala672Ter)
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro)	rs121912693

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