List of variants reported as likely benign for amino acid metabolism disease by Pars Genome Lab

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.637+102A>G	rs539158	0.14245
NM_022132.5(MCCC2):c.738+132C>T	rs77085070	0.08077
NM_052845.4(MMAB):c.584+24A>G	rs78599682	0.07555
NM_003060.4(SLC22A5):c.1052+101A>G	rs2073645	0.06948
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	rs35976361	0.01187
NM_020166.5(MCCC1):c.874-95A>G	rs144420749	0.00802
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg)	rs74636274	0.00587
NM_001142800.2(EYS):c.2613C>T (p.Asp871=)	rs192059823	0.00284
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)	rs201580493	0.00166
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)	rs115049252	0.00145
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)	rs146115467	0.00058
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)	rs139270936	0.00013
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)	rs185480832	0.00011
NM_000159.4(GCDH):c.1299G>A (p.Ala433=)	rs150271870	0.00008
NM_054012.4(ASS1):c.786C>T (p.Gly262=)	rs536799104	0.00003
NM_001876.4(CPT1A):c.495C>T (p.Tyr165=)	rs139789100	0.00001

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