List of variants reported as pathogenic for Phenylketonuria by Counsyl

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		ClinVar version:

Total variants: 47

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)	rs62516092	0.00014
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)	rs77958223	0.00010
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)	rs76687508	0.00009
NM_000277.3(PAH):c.896T>G (p.Phe299Cys)	rs62642933	0.00007
NM_000277.3(PAH):c.1162G>A (p.Val388Met)	rs62516101	0.00005
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)	rs76296470	0.00004
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)	rs75166491	0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)	rs5030846	0.00004
NM_000277.3(PAH):c.168+5G>C	rs62507288	0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)	rs199475575	0.00003
NM_000277.3(PAH):c.60+5G>T	rs62514895	0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)	rs74503222	0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His)	rs62642939	0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val)	rs62642934	0.00003
NM_000277.3(PAH):c.169-2A>G	rs1226613045	0.00001
NM_000277.3(PAH):c.441+5G>T	rs62507321	0.00001
NM_000277.3(PAH):c.569T>C (p.Val190Ala)	rs62514919	0.00001
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)	rs62514927	0.00001
NM_000277.3(PAH):c.673C>A (p.Pro225Thr)	rs199475589	0.00001
NM_000277.3(PAH):c.694C>T (p.Gln232Ter)	rs62507348	0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	rs5030850	0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)	rs78655458	0.00001
NM_000277.3(PAH):c.842+3G>C	rs62507324	0.00001
NM_000277.3(PAH):c.847A>T (p.Ile283Phe)	rs62517168	0.00001
NM_000277.3(PAH):c.1024del (p.Ala342fs)	rs63581460
NM_000277.3(PAH):c.1055del (p.Gly352fs)	rs62516094
NM_000277.3(PAH):c.1065+1G>A	rs62516147
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)	rs62516095
NM_000277.3(PAH):c.1197A>T (p.Val399=)	rs199475584
NM_000277.3(PAH):c.1198del (p.Arg400fs)	rs199475590
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)	rs79931499
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)	rs62644501
NM_000277.3(PAH):c.165del (p.Phe55fs)	rs199475566
NM_000277.3(PAH):c.208_210del (p.Ser70del)	rs62642094
NM_000277.3(PAH):c.266dup (p.Ala90fs)	rs62506950
NM_000277.3(PAH):c.398_401del (p.Asn133fs)	rs199475605
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)	rs199475645
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)	rs74486803
NM_000277.3(PAH):c.529G>C (p.Val177Leu)	rs199475602
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)	rs62517201
NM_000277.3(PAH):c.632del (p.Pro211fs)	rs62514929
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)	rs5030845
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)	rs5030847
NM_000277.3(PAH):c.833C>T (p.Thr278Ile)	rs62507262
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)	rs62508573
NM_000277.3(PAH):c.977G>A (p.Trp326Ter)	rs62514959

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