ClinVar Miner

List of variants in gene PAH reported as likely pathogenic by Counsyl

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Gene type:
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Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 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.842+1G>A rs5030852 0.00004
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095 0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg) rs752255985 0.00003
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000277.3(PAH):c.558_559del (p.Trp187fs) rs62517207 0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844 0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys) rs199475658 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236 0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.776C>T (p.Ala259Val) rs118203921 0.00001
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys) rs62516155 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000277.3(PAH):c.940C>A (p.Pro314Thr) rs199475650 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618 0.00001
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter) rs1037293795
NM_000277.3(PAH):c.1166del (p.Ala389fs) rs62506949
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs) rs1429055740
NM_000277.3(PAH):c.1180del (p.Asp394fs) rs1555203666
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1199+2T>G rs62508737
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1209del (p.Ala404fs) rs1555203401
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser) rs62644465
NM_000277.3(PAH):c.127G>T (p.Glu43Ter) rs1555209575
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.1293_1294del (p.Lys431fs) rs1555203363
NM_000277.3(PAH):c.1298dup (p.Leu433fs) rs1057516377
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) rs199475659
NM_000277.3(PAH):c.1314_1315+4del rs1334974448
NM_000277.3(PAH):c.1315+1G>T rs5030861
NM_000277.3(PAH):c.1315+4A>G rs62508649
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) rs199475641
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.329del (p.Ser110fs) rs1057516389
NM_000277.3(PAH):c.352+2dup rs1057516604
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) rs199475680
NM_000277.3(PAH):c.439C>T (p.Pro147Ser) rs199475624
NM_000277.3(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.3(PAH):c.441+1G>C rs62517166
NM_000277.3(PAH):c.441+3G>C rs62508642
NM_000277.3(PAH):c.442-2A>C rs281865448
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.482T>C (p.Phe161Ser) rs79635844
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.563G>A (p.Gly188Asp) rs199475689
NM_000277.3(PAH):c.580_581del (p.Leu194fs) rs62508587
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.60+1G>C rs1555209932
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.610dup (p.Tyr204fs) rs1555204711
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.635T>C (p.Leu212Pro) rs62517198
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.689T>C (p.Val230Ala) rs199475673
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.724C>T (p.Leu242Phe) rs199475578
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.739G>C (p.Gly247Arg) rs62508731
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.745del (p.Leu249fs) rs1057516914
NM_000277.3(PAH):c.754C>G (p.Arg252Gly) rs5030847
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.775G>A (p.Ala259Thr) rs62642932
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000277.3(PAH):c.790del (p.His264fs) rs1057517009
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.824C>G (p.Pro275Arg) rs62508715
NM_000277.3(PAH):c.824C>T (p.Pro275Leu) rs62508715
NM_000277.3(PAH):c.826A>G (p.Met276Val) rs62516149
NM_000277.3(PAH):c.833C>A (p.Thr278Asn) rs62507262
NM_000277.3(PAH):c.913-2A>C rs1555203951
NM_000277.3(PAH):c.926C>A (p.Ala309Asp) rs62642935
NM_000277.3(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000277.3(PAH):c.992T>C (p.Phe331Ser) rs199475614

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