List of variants reported as pathogenic for amino acid metabolism disease by Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1066-11G>A	rs5030855	0.00028
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)	rs5030859	0.00004
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	rs121908127	0.00004
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	rs5030850	0.00001
NM_000277.3(PAH):c.997C>T (p.Leu333Phe)	rs62516060	0.00001
NM_000277.3(PAH):c.199T>G (p.Ser67Ala)	rs5030842
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)	rs5030847
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)	rs748094459
NM_004937.3(CTNS):c.681G>A (p.Glu227=)	rs778414542

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