List of variants reported as pathogenic for amino acid metabolism disease by Center for Molecular Medicine, Children’s Hospital of Fudan University

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892	0.00014
NM_000387.6(SLC25A20):c.199-10T>G	rs541208710	0.00003
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236	0.00002
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)	rs1488232864
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)	rs1592947508
NM_000277.3(PAH):c.1200-2A>C	rs1592945607
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)	rs1592945394
NM_000277.3(PAH):c.1316-1G>A	rs1592944816
NM_000277.3(PAH):c.32T>A (p.Leu11Ter)	rs1346707834
NM_000277.3(PAH):c.346_347del (p.Asp116fs)	rs1592978629
NM_000277.3(PAH):c.590T>A (p.Leu197Ter)	rs886042078
NM_000282.4(PCCA):c.1845+1G>A	rs1595860868
NM_000282.4(PCCA):c.446del (p.Asn149fs)	rs1206838893
NM_000360.4(TH):c.601C>T (p.Gln201Ter)	rs1057517423
NM_000387.6(SLC25A20):c.270del (p.Phe91fs)	rs1575989549
NM_001370658.1(BTD):c.1433dup (p.Leu478fs)	rs397514425

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