List of variants studied for inborn disorder of amino acid and other organic acid metabolism by Hadassah Hebrew University Medical Center

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	rs5742905	0.00083
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	rs63159160	0.00029
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)	rs397514649
NM_000372.5(TYR):c.1056del (p.Gly353_Ile354insTer)	rs1943996205
NM_001002755.4(NFU1):c.485-1G>C	rs1464338870
NM_001080.3(ALDH5A1):c.1045C>T (p.Gln349Ter)	rs1581819950

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