List of variants in gene PAH reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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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.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.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.782G>A (p.Arg261Gln)	rs5030849	0.00022
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)	rs5030841	0.00020
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)	rs62516092	0.00014
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)	rs62644499	0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)	rs62642926	0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)	rs62508698	0.00009
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	rs5030856	0.00008
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)	rs76394784	0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)	rs5030843	0.00007
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)	rs62514952	0.00006
NM_000277.3(PAH):c.1162G>A (p.Val388Met)	rs62516101	0.00005
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.809G>A (p.Arg270Lys)	rs62514950	0.00002
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)	rs62516062	0.00001
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)	rs62509017	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.755G>A (p.Arg252Gln)	rs62644503	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.913-7A>G	rs62517165	0.00001
NM_000277.3(PAH):c.1055del (p.Gly352fs)	rs62516094
NM_000277.3(PAH):c.1089del (p.Lys363fs)	rs5030654
NM_000277.3(PAH):c.165del (p.Phe55fs)	rs199475566
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)	rs5030842
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)	rs62508727
NM_000277.3(PAH):c.428A>G (p.Asp143Gly)	rs199475572
NM_000277.3(PAH):c.722G>A (p.Arg241His)	rs62508730
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)	rs5030847
NM_000277.3(PAH):c.978G>A (p.Trp326Ter)	rs1555203761

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