List of variants reported as pathogenic for Phenylketonuria by 3billion

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	rs5030858	0.00092
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.194T>C (p.Ile65Thr)	rs75193786	0.00032
NM_000277.3(PAH):c.1066-11G>A	rs5030855	0.00028
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)	rs5030860	0.00025
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	rs199475598	0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00022
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)	rs5030841	0.00020
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)	rs76687508	0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)	rs62508698	0.00009
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)	rs5030843	0.00007
NM_000277.3(PAH):c.1162G>A (p.Val388Met)	rs62516101	0.00005
NM_000277.3(PAH):c.516G>T (p.Gln172His)	rs192592111	0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)	rs199475575	0.00003
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)	rs62508736	0.00001
NM_000277.3(PAH):c.441+5G>T	rs62507321	0.00001
NM_000277.3(PAH):c.673C>A (p.Pro225Thr)	rs199475589	0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)	rs62644503	0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	rs62642945	0.00001
NM_000277.3(PAH):c.1065+1G>T	rs62516147
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)	rs199475624
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)	rs74486803
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)	rs199475697
NM_000277.3(PAH):c.676C>A (p.Gln226Lys)	rs62508696
NM_000277.3(PAH):c.969+1G>A	rs62508584

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