List of variants reported as pathogenic for inborn disorder of amino acid metabolism by Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)	rs121434371	0.00011
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	rs60376624	0.00009
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)	rs5030843	0.00007
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)	rs11568520	0.00005
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)	rs5030859	0.00004
NM_001609.4(ACADSB):c.1165A>G (p.Met389Val)	rs201877440	0.00004
NM_000277.3(PAH):c.464G>A (p.Arg155His)	rs199475663	0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00003
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	rs373771053	0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)	rs532190594	0.00002
NM_000255.4(MMUT):c.323G>A (p.Arg108His)	rs483352778	0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_001609.4(ACADSB):c.655G>A (p.Val219Met)	rs553730391	0.00001
NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr)	rs770456976	0.00001
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)	rs80338725	0.00001
NM_014384.3(ACAD8):c.286G>A (p.Gly96Ser)	rs773472208	0.00001
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro)	rs1767556193
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)	rs62516095
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter)	rs1191473722
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)	rs62642906
NM_000277.3(PAH):c.935G>T (p.Gly312Val)	rs62642915
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)	rs104894276
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)	rs1057518297
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)	rs121908893
NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCA
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)	rs80338720
NM_022132.5(MCCC2):c.1103del (p.Gly368fs)	rs756218448

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