List of variants reported as uncertain significance for amino acid metabolism disease by Pars Genome Lab

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)	rs200935518	0.00083
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)	rs71441018	0.00050
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)	rs143877538	0.00019
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)	rs772888249	0.00006
NM_000360.4(TH):c.599G>A (p.Arg200His)	rs201224335	0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	rs147538370	0.00004
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)	rs1057515879	0.00002
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)	rs796064513

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