ClinVar Miner

List of variants studied for Phenylketonuria by Revvity Omics, Revvity

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Total variants: 65
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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.158G>A (p.Arg53His) rs118092776 0.00091
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00069
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.299A>G (p.His100Arg) rs148393887 0.00035
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
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.506G>A (p.Arg169His) rs199475679 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.721C>T (p.Arg241Cys) rs76687508 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.1174T>A (p.Phe392Ile) rs180819807 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 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.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
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.842+1G>A rs5030852 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 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.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000277.3(PAH):c.169-2A>G rs1226613045 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.665A>G (p.Asp222Gly) rs62507319 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.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.350_351del (p.Thr117fs)
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.510T>G (p.His170Gln) rs199475652
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.720C>T (p.Phe240=)
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.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.946G>T (p.Glu316Ter)

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