List of variants reported as pathogenic for inborn disorder of amino acid metabolism by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892	0.00014
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)	rs76687508	0.00009
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_000159.4(GCDH):c.1244-2A>C	rs199999619	0.00003
NM_014251.3(SLC25A13):c.615+5G>A	rs80338717	0.00003
NM_000255.4(MMUT):c.1677-1G>A	rs754369323	0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)	rs104894280	0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)	rs397514383	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_000528.4(MAN2B1):c.729_730insTT (p.Ser244fs)	rs1568307275
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)	rs771944310
NM_014251.3(SLC25A13):c.1664_1665insAGATTACAGGTGGCTGCCCGGGG (p.Gln556fs)	rs1562774655
NM_014251.3(SLC25A13):c.493C>T (p.Gln165Ter)	rs1562831765
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)	rs80338720

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