List of variants reported as pathogenic for inborn disorder of amino acid metabolism by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00120
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	rs5030858	0.00092
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00057
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	rs76212747	0.00049
NM_000277.3(PAH):c.1315+1G>A	rs5030861	0.00040
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00029
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)	rs5030860	0.00025
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)	rs62508698	0.00009
NM_000048.4(ASL):c.446+1G>A	rs142637046	0.00008
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)	rs199475575	0.00003
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)	rs62507336	0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His)	rs62642940	0.00001

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