List of variants reported as uncertain significance for amino acid metabolism disease by Clinical Genomics Program, Stanford Medicine

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr)	rs150544263	0.00016
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)	rs386134194	0.00003
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys)	rs796052248	0.00001
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp)	rs370169077
NM_003060.4(SLC22A5):c.794T>G (p.Met265Arg)	rs1752495086
NM_005629.4(SLC6A8):c.1232T>C (p.Leu411Ser)	rs2091472802
NM_005629.4(SLC6A8):c.1249A>C (p.Ser417Arg)	rs2091472899
NM_058179.4(PSAT1):c.420G>T (p.Trp140Cys)	rs1008314756
NM_058179.4(PSAT1):c.955dup (p.Arg319fs)	rs916968001

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