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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	rs121964954	0.00004
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752	0.00002
NM_001370658.1(BTD):c.577del (p.His193fs)	rs780874850	0.00001
NM_005518.4(HMGCS2):c.1187+1G>C	rs764706394	0.00001
NM_000019.4(ACAT1):c.1043del (p.Ala348fs)	rs1565297769
NM_000255.4(MMUT):c.1148dup (p.Ser384fs)	rs771021560
NM_000360.4(TH):c.714_715del (p.Leu239fs)	rs1564918287
NM_004453.4(ETFDH):c.380T>A (p.Leu127His)	rs121964956
NM_005957.5(MTHFR):c.1267dup (p.Glu423fs)	rs1557761665
NM_153006.3(NAGS):c.102_103insAGATCGGAAGA (p.Ala35fs)	rs1567941557

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