ClinVar Miner

List of variants in gene PAH reported as likely benign for Phenylketonuria

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 335
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.441+47C>T rs1718301 0.37849
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000277.2(PAH):c.-147C>T rs62517177 0.02849
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292 0.01582
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106 0.00272
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000277.3(PAH):c.706+17G>T rs62508592 0.00087
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147 0.00036
NM_000277.3(PAH):c.969+7C>T rs80324017 0.00032
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475 0.00023
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106 0.00019
NM_000277.3(PAH):c.442-18G>A rs149538764 0.00014
NM_000277.3(PAH):c.60+9C>T rs369454152 0.00009
NM_000277.3(PAH):c.681G>A (p.Leu227=) rs182135145 0.00009
NM_000277.3(PAH):c.1140G>A (p.Thr380=) rs373763334 0.00008
NM_000277.3(PAH):c.837C>T (p.Pro279=) rs138355741 0.00008
NM_000277.3(PAH):c.*144A>G rs375319584 0.00007
NM_000277.3(PAH):c.222A>G (p.Lys74=) rs374797155 0.00006
NM_000277.3(PAH):c.352+11G>C rs371926082 0.00006
NM_000277.3(PAH):c.438C>T (p.His146=) rs191142120 0.00006
NM_000277.3(PAH):c.804C>T (p.Tyr268=) rs748337823 0.00006
NM_000277.3(PAH):c.1002C>T (p.Cys334=) rs140243918 0.00004
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu) rs62517206 0.00004
NM_000277.3(PAH):c.420G>A (p.Ala140=) rs200366386 0.00004
NM_000277.3(PAH):c.441+7C>A rs775999845 0.00004
NM_000277.3(PAH):c.588C>T (p.Ser196=) rs755420480 0.00004
NM_000277.3(PAH):c.1065+39G>T rs62510582 0.00002
NM_000277.3(PAH):c.1066-4A>G rs757320744 0.00002
NM_000277.3(PAH):c.1098C>A (p.Pro366=) rs776159017 0.00002
NM_000277.3(PAH):c.12G>A (p.Ala4=) rs536605300 0.00002
NM_000277.3(PAH):c.441+15C>T rs187133779 0.00002
NM_000277.3(PAH):c.441+9A>G rs756060157 0.00002
NM_000277.3(PAH):c.442-14C>T rs775806999 0.00002
NM_000277.3(PAH):c.642A>G (p.Glu214=) rs373782868 0.00002
NM_000277.3(PAH):c.1026A>G (p.Ala342=) rs766756246 0.00001
NM_000277.3(PAH):c.1041C>T (p.Leu347=) rs1233192488 0.00001
NM_000277.3(PAH):c.1059A>G (p.Glu353=) rs1403823473 0.00001
NM_000277.3(PAH):c.1066-5T>C rs910131541 0.00001
NM_000277.3(PAH):c.1095C>G (p.Leu365=) rs747661840 0.00001
NM_000277.3(PAH):c.1185C>A (p.Ala395=) rs760256025 0.00001
NM_000277.3(PAH):c.1188G>A (p.Lys396=) rs772683682 0.00001
NM_000277.3(PAH):c.1251C>T (p.Tyr417=) rs1272159852 0.00001
NM_000277.3(PAH):c.1254C>T (p.Thr418=) rs755787172 0.00001
NM_000277.3(PAH):c.1270T>C (p.Leu424=) rs148041893 0.00001
NM_000277.3(PAH):c.1299G>A (p.Leu433=) rs770034263 0.00001
NM_000277.3(PAH):c.135T>G (p.Val45=) rs773425620 0.00001
NM_000277.3(PAH):c.169-42T>A rs281865459 0.00001
NM_000277.3(PAH):c.169-9C>G rs747810402 0.00001
NM_000277.3(PAH):c.198A>G (p.Glu66=) rs117308669 0.00001
NM_000277.3(PAH):c.231T>C (p.Tyr77=) rs62507332 0.00001
NM_000277.3(PAH):c.352+10A>G rs559561517 0.00001
NM_000277.3(PAH):c.353-9G>T rs757191681 0.00001
NM_000277.3(PAH):c.424C>T (p.Leu142=) rs375364629 0.00001
NM_000277.3(PAH):c.42A>G (p.Lys14=) rs759956741 0.00001
NM_000277.3(PAH):c.450A>G (p.Lys150=) rs749317892 0.00001
NM_000277.3(PAH):c.509+18G>T rs749428436 0.00001
NM_000277.3(PAH):c.509+9G>A rs1392904247 0.00001
NM_000277.3(PAH):c.513G>T (p.Gly171=) rs143211522 0.00001
NM_000277.3(PAH):c.60+10G>C rs1878409841 0.00001
NM_000277.3(PAH):c.61-7C>T rs1246404276 0.00001
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928 0.00001
NM_000277.3(PAH):c.633A>C (p.Pro211=) rs1347265181 0.00001
NM_000277.3(PAH):c.687C>T (p.Asp229=) rs966010608 0.00001
NM_000277.3(PAH):c.693T>C (p.Ser231=) rs1592954345 0.00001
NM_000277.3(PAH):c.702G>A (p.Leu234=) rs993558609 0.00001
NM_000277.3(PAH):c.771C>T (p.Gly257=) rs544995045 0.00001
NM_000277.3(PAH):c.786C>T (p.Val262=) rs776860902 0.00001
NM_000277.3(PAH):c.825C>T (p.Pro275=) rs1875223145 0.00001
NM_000277.3(PAH):c.842+8C>T rs747113268 0.00001
NM_000277.3(PAH):c.936T>C (p.Gly312=) rs776778122 0.00001
NM_000277.3(PAH):c.969+12C>T rs1874869257 0.00001
NM_000277.2(PAH):c.-224G>A rs886048892
NM_000277.2(PAH):c.-460delG rs113191080
NM_000277.3(PAH):c.1017C>T (p.Ser339=)
NM_000277.3(PAH):c.1023G>A (p.Lys341=)
NM_000277.3(PAH):c.1026A>C (p.Ala342=)
NM_000277.3(PAH):c.1029T>C (p.Tyr343=)
NM_000277.3(PAH):c.1032T>C (p.Gly344=)
NM_000277.3(PAH):c.1050C>A (p.Ser350=)
NM_000277.3(PAH):c.1050C>G (p.Ser350=) rs2136636815
NM_000277.3(PAH):c.1062A>G (p.Leu354=) rs2136636752
NM_000277.3(PAH):c.1065+15G>A
NM_000277.3(PAH):c.1065+16G>A
NM_000277.3(PAH):c.1065+20C>A
NM_000277.3(PAH):c.1065+20C>G rs370258593
NM_000277.3(PAH):c.1065+20C>T rs370258593
NM_000277.3(PAH):c.1065+7C>T
NM_000277.3(PAH):c.1065+8C>A
NM_000277.3(PAH):c.1065+8C>T rs2136636719
NM_000277.3(PAH):c.1065+9T>G rs1874730997
NM_000277.3(PAH):c.1066-14C>T
NM_000277.3(PAH):c.1066-16C>T
NM_000277.3(PAH):c.1066-19T>G
NM_000277.3(PAH):c.1066-31G>A rs199475685
NM_000277.3(PAH):c.1066-5T>G
NM_000277.3(PAH):c.1066-7C>T rs1242756437
NM_000277.3(PAH):c.1066-8G>C
NM_000277.3(PAH):c.1071C>T (p.Cys357=) rs766107583
NM_000277.3(PAH):c.1080G>A (p.Glu360=)
NM_000277.3(PAH):c.1083G>A (p.Lys361=) rs1874700949
NM_000277.3(PAH):c.1089G>A (p.Lys363=) rs63329263
NM_000277.3(PAH):c.1092T>G (p.Leu364=) rs1174053337
NM_000277.3(PAH):c.1095C>A (p.Leu365=)
NM_000277.3(PAH):c.1095C>T (p.Leu365=) rs747661840
NM_000277.3(PAH):c.1098C>G (p.Pro366=)
NM_000277.3(PAH):c.1113G>A (p.Lys371=)
NM_000277.3(PAH):c.1134T>C (p.Thr378=) rs1874693005
NM_000277.3(PAH):c.1134T>G (p.Thr378=) rs1874693005
NM_000277.3(PAH):c.1143G>A (p.Glu381=) rs2136635626
NM_000277.3(PAH):c.1152C>A (p.Pro384=)
NM_000277.3(PAH):c.1152C>G (p.Pro384=) rs281865458
NM_000277.3(PAH):c.1155C>A (p.Leu385=) rs772897
NM_000277.3(PAH):c.1158T>C (p.Tyr386=) rs2136635574
NM_000277.3(PAH):c.1164G>C (p.Val388=)
NM_000277.3(PAH):c.1167A>G (p.Ala389=) rs2136635539
NM_000277.3(PAH):c.1170G>A (p.Glu390=) rs2136635531
NM_000277.3(PAH):c.1199+18G>A
NM_000277.3(PAH):c.1199+19T>C
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000277.3(PAH):c.1199+88C>T
NM_000277.3(PAH):c.1199+9G>C
NM_000277.3(PAH):c.1200-16G>A
NM_000277.3(PAH):c.1200-17T>G
NM_000277.3(PAH):c.1200-19C>A
NM_000277.3(PAH):c.1200-4T>A rs2136632220
NM_000277.3(PAH):c.1200-8G>C rs62507261
NM_000277.3(PAH):c.1200-8G>T rs62507261
NM_000277.3(PAH):c.1200-9T>C rs1329150180
NM_000277.3(PAH):c.1215A>G (p.Thr405=)
NM_000277.3(PAH):c.1221T>G (p.Pro407=)
NM_000277.3(PAH):c.1245C>T (p.Asp415=)
NM_000277.3(PAH):c.1248A>C (p.Pro416=) rs1874540728
NM_000277.3(PAH):c.1248A>G (p.Pro416=)
NM_000277.3(PAH):c.1254C>A (p.Thr418=) rs755787172
NM_000277.3(PAH):c.1257A>G (p.Gln419=) rs2136632019
NM_000277.3(PAH):c.1266G>A (p.Glu422=)
NM_000277.3(PAH):c.1287G>A (p.Gln429=) rs2136631945
NM_000277.3(PAH):c.1305T>C (p.Asp435=)
NM_000277.3(PAH):c.1315+10T>G
NM_000277.3(PAH):c.1315+13C>T
NM_000277.3(PAH):c.1315+14del
NM_000277.3(PAH):c.1315+16C>A
NM_000277.3(PAH):c.1315+17T>C
NM_000277.3(PAH):c.1315+7A>C
NM_000277.3(PAH):c.1315+9T>C rs199979357
NM_000277.3(PAH):c.1316-11T>C
NM_000277.3(PAH):c.1316-17G>A
NM_000277.3(PAH):c.1316-8C>A rs2136630870
NM_000277.3(PAH):c.1316-9T>C
NM_000277.3(PAH):c.1329C>A (p.Ile443=) rs1285012083
NM_000277.3(PAH):c.1332T>G (p.Leu444=) rs957481163
NM_000277.3(PAH):c.1341C>A (p.Ala447=) rs2136630826
NM_000277.3(PAH):c.1344C>T (p.Leu448=) rs747923532
NM_000277.3(PAH):c.1353A>C (p.Ile451=) rs1440206706
NM_000277.3(PAH):c.135T>C (p.Val45=) rs773425620
NM_000277.3(PAH):c.147C>G (p.Ala49=) rs2136728129
NM_000277.3(PAH):c.153A>T (p.Val51=) rs2136728110
NM_000277.3(PAH):c.159C>T (p.Arg53=) rs2136728068
NM_000277.3(PAH):c.165T>C (p.Phe55=) rs199475598
NM_000277.3(PAH):c.168+13A>G
NM_000277.3(PAH):c.168+14T>C
NM_000277.3(PAH):c.168+17T>C
NM_000277.3(PAH):c.168+18G>T
NM_000277.3(PAH):c.168+19T>G
NM_000277.3(PAH):c.169-10T>C rs536596014
NM_000277.3(PAH):c.169-10T>G rs536596014
NM_000277.3(PAH):c.169-16_169-15del
NM_000277.3(PAH):c.169-18C>A
NM_000277.3(PAH):c.169-5T>A rs2136702231
NM_000277.3(PAH):c.169-8T>C
NM_000277.3(PAH):c.184C>T (p.Leu62=)
NM_000277.3(PAH):c.192C>T (p.His64=)
NM_000277.3(PAH):c.201T>G (p.Ser67=) rs1368765465
NM_000277.3(PAH):c.204A>G (p.Arg68=)
NM_000277.3(PAH):c.21A>G (p.Glu7=) rs2136734114
NM_000277.3(PAH):c.228G>A (p.Glu76=)
NM_000277.3(PAH):c.247T>C (p.Leu83=) rs2136701833
NM_000277.3(PAH):c.261C>T (p.Ser87=) rs62516151
NM_000277.3(PAH):c.264G>A (p.Leu88=)
NM_000277.3(PAH):c.27A>C (p.Pro9=)
NM_000277.3(PAH):c.285C>T (p.Ile95=) rs1877427309
NM_000277.3(PAH):c.291C>T (p.Ile97=) rs2136701670
NM_000277.3(PAH):c.297G>A (p.Arg99=)
NM_000277.3(PAH):c.303C>T (p.Asp101=)
NM_000277.3(PAH):c.309T>G (p.Gly103=) rs2136701573
NM_000277.3(PAH):c.312C>T (p.Ala104=)
NM_000277.3(PAH):c.327T>C (p.Leu109=) rs1229487239
NM_000277.3(PAH):c.339G>A (p.Lys113=)
NM_000277.3(PAH):c.342G>A (p.Lys114=) rs2136701489
NM_000277.3(PAH):c.352+10A>C rs559561517
NM_000277.3(PAH):c.352+16A>G
NM_000277.3(PAH):c.352+7A>C
NM_000277.3(PAH):c.352+7A>T rs2136701430
NM_000277.3(PAH):c.353-14T>C
NM_000277.3(PAH):c.353-16C>T
NM_000277.3(PAH):c.353-18G>A
NM_000277.3(PAH):c.353-4T>G rs2136679249
NM_000277.3(PAH):c.353-7G>A rs2136679264
NM_000277.3(PAH):c.353-7G>T rs2136679264
NM_000277.3(PAH):c.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.353-8T>C rs1174392751
NM_000277.3(PAH):c.357C>T (p.Pro119=) rs2136679226
NM_000277.3(PAH):c.366A>G (p.Pro122=)
NM_000277.3(PAH):c.375T>C (p.Ile125=) rs1028484259
NM_000277.3(PAH):c.381G>A (p.Glu127=) rs767127989
NM_000277.3(PAH):c.39G>A (p.Arg13=)
NM_000277.3(PAH):c.420G>T (p.Ala140=) rs200366386
NM_000277.3(PAH):c.432T>C (p.Ala144=)
NM_000277.3(PAH):c.435C>T (p.Asp145=)
NM_000277.3(PAH):c.441+10T>C
NM_000277.3(PAH):c.441+12G>A rs767307581
NM_000277.3(PAH):c.441+16G>A
NM_000277.3(PAH):c.441+16G>T
NM_000277.3(PAH):c.441+18del
NM_000277.3(PAH):c.441+20G>T
NM_000277.3(PAH):c.441+8C>T rs777613969
NM_000277.3(PAH):c.442-10T>C
NM_000277.3(PAH):c.442-14C>G
NM_000277.3(PAH):c.442-17T>C
NM_000277.3(PAH):c.442-4C>G rs987125136
NM_000277.3(PAH):c.442-4C>T
NM_000277.3(PAH):c.442-7C>A
NM_000277.3(PAH):c.442-7C>T
NM_000277.3(PAH):c.447T>C (p.Phe149=) rs770990005
NM_000277.3(PAH):c.456T>C (p.Pro152=) rs377244118
NM_000277.3(PAH):c.45C>G (p.Leu15=)
NM_000277.3(PAH):c.462C>T (p.Tyr154=) rs1191473722
NM_000277.3(PAH):c.465T>C (p.Arg155=)
NM_000277.3(PAH):c.471A>G (p.Arg157=)
NM_000277.3(PAH):c.474G>A (p.Arg158=) rs2136663312
NM_000277.3(PAH):c.477G>A (p.Lys159=)
NM_000277.3(PAH):c.489C>T (p.Asp163=) rs1315260421
NM_000277.3(PAH):c.495C>T (p.Ala165=) rs1875979842
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.504C>T (p.Tyr168=)
NM_000277.3(PAH):c.509+15C>T
NM_000277.3(PAH):c.509+17T>C
NM_000277.3(PAH):c.509+19T>C
NM_000277.3(PAH):c.509+9del
NM_000277.3(PAH):c.510-10T>C rs1256834291
NM_000277.3(PAH):c.510-14T>C
NM_000277.3(PAH):c.510-16T>G rs2136649964
NM_000277.3(PAH):c.510-20A>G
NM_000277.3(PAH):c.510-7A>G
NM_000277.3(PAH):c.510-8T>C
NM_000277.3(PAH):c.510-9G>A
NM_000277.3(PAH):c.526C>A (p.Arg176=)
NM_000277.3(PAH):c.543G>A (p.Glu181=)
NM_000277.3(PAH):c.54T>C (p.Phe18=) rs1878411076
NM_000277.3(PAH):c.567A>G (p.Thr189=) rs1368976942
NM_000277.3(PAH):c.570G>A (p.Val190=) rs2136649631
NM_000277.3(PAH):c.60+10G>A rs1878409841
NM_000277.3(PAH):c.60+12C>T
NM_000277.3(PAH):c.60+17T>A
NM_000277.3(PAH):c.60+19A>G
NM_000277.3(PAH):c.60+7_60+12del
NM_000277.3(PAH):c.61-10T>C
NM_000277.3(PAH):c.61-13T>C
NM_000277.3(PAH):c.61-15C>A
NM_000277.3(PAH):c.61-15C>T
NM_000277.3(PAH):c.61-17T>C
NM_000277.3(PAH):c.61-19A>G
NM_000277.3(PAH):c.61-4G>A
NM_000277.3(PAH):c.61-4del
NM_000277.3(PAH):c.61-6C>T rs2136728439
NM_000277.3(PAH):c.61-9A>C
NM_000277.3(PAH):c.61-9A>T rs2136728443
NM_000277.3(PAH):c.615G>A (p.Glu205=)
NM_000277.3(PAH):c.651T>C (p.Cys217=) rs2136649339
NM_000277.3(PAH):c.654C>G (p.Gly218=) rs777465976
NM_000277.3(PAH):c.654C>T (p.Gly218=) rs777465976
NM_000277.3(PAH):c.657C>T (p.Phe219=)
NM_000277.3(PAH):c.669C>T (p.Asn223=) rs1875356807
NM_000277.3(PAH):c.66A>C (p.Thr22=) rs2136728416
NM_000277.3(PAH):c.675C>T (p.Pro225=) rs2136649258
NM_000277.3(PAH):c.679C>T (p.Leu227=)
NM_000277.3(PAH):c.706+11A>C
NM_000277.3(PAH):c.706+11A>T
NM_000277.3(PAH):c.706+12T>G
NM_000277.3(PAH):c.706+19C>A
NM_000277.3(PAH):c.706+8C>A rs2136649125
NM_000277.3(PAH):c.706+8C>T rs2136649125
NM_000277.3(PAH):c.706+9A>G
NM_000277.3(PAH):c.707-12T>C
NM_000277.3(PAH):c.707-17_707-14del
NM_000277.3(PAH):c.707-18T>C rs779692890
NM_000277.3(PAH):c.707-18T>G
NM_000277.3(PAH):c.707-4C>A
NM_000277.3(PAH):c.707-8C>T rs764946616
NM_000277.3(PAH):c.714T>A (p.Thr238=) rs2136646476
NM_000277.3(PAH):c.714T>C (p.Thr238=)
NM_000277.3(PAH):c.72T>C (p.Tyr24=) rs2136728385
NM_000277.3(PAH):c.732T>G (p.Pro244=)
NM_000277.3(PAH):c.742C>T (p.Leu248=)
NM_000277.3(PAH):c.750C>A (p.Ser250=) rs1592953026
NM_000277.3(PAH):c.750C>T (p.Ser250=) rs1592953026
NM_000277.3(PAH):c.754C>A (p.Arg252=)
NM_000277.3(PAH):c.756G>A (p.Arg252=) rs1320172123
NM_000277.3(PAH):c.75T>C (p.Ile25=) rs1592988950
NM_000277.3(PAH):c.771C>A (p.Gly257=) rs544995045
NM_000277.3(PAH):c.774G>A (p.Leu258=) rs2136646229
NM_000277.3(PAH):c.774G>T (p.Leu258=) rs2136646229
NM_000277.3(PAH):c.783A>G (p.Arg261=) rs2136646206
NM_000277.3(PAH):c.789C>T (p.Phe263=)
NM_000277.3(PAH):c.792C>T (p.His264=) rs912042558
NM_000277.3(PAH):c.795C>T (p.Cys265=) rs1231529155
NM_000277.3(PAH):c.801G>A (p.Gln267=) rs199475675
NM_000277.3(PAH):c.807C>A (p.Ile269=)
NM_000277.3(PAH):c.816A>G (p.Gly272=)
NM_000277.3(PAH):c.81C>T (p.Asp27=) rs1878258443
NM_000277.3(PAH):c.842+11T>C
NM_000277.3(PAH):c.842+20T>C
NM_000277.3(PAH):c.842+20T>G
NM_000277.3(PAH):c.913-18A>G
NM_000277.3(PAH):c.913-8A>C
NM_000277.3(PAH):c.913-9C>T rs2136639713
NM_000277.3(PAH):c.921C>T (p.Gly307=) rs920882128
NM_000277.3(PAH):c.927C>T (p.Ala309=) rs1449406538
NM_000277.3(PAH):c.930T>C (p.Ser310=)
NM_000277.3(PAH):c.936T>A (p.Gly312=) rs776778122
NM_000277.3(PAH):c.951C>T (p.Tyr317=) rs2136639538
NM_000277.3(PAH):c.954T>C (p.Ile318=) rs2136639524
NM_000277.3(PAH):c.969+14C>G
NM_000277.3(PAH):c.969+14C>T
NM_000277.3(PAH):c.969+16C>T
NM_000277.3(PAH):c.969+18C>T
NM_000277.3(PAH):c.969+19T>C
NM_000277.3(PAH):c.969+9C>G rs1448283369
NM_000277.3(PAH):c.970-7A>T rs745670264
NM_000277.3(PAH):c.990G>A (p.Glu330=)
NM_000277.3(PAH):c.993T>C (p.Phe331=)
NM_000277.3(PAH):c.999C>G (p.Leu333=) rs777221457
NM_000277.3(PAH):c.999C>T (p.Leu333=) rs777221457
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673

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