ClinVar Miner

List of variants in gene PAH reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 353
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.441+47C>T rs1718301 0.37849
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
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.60+299C>G rs75094967 0.01299
NM_000277.3(PAH):c.168+267A>T rs113190378 0.01283
NM_001354304.2(PAH):c.-95-532G>A rs77411738 0.01268
NM_000277.3(PAH):c.509+140G>A rs112222839 0.01009
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.1315+20C>T rs190655222 0.00250
NM_000277.3(PAH):c.441+20G>A rs111842675 0.00229
NM_000277.3(PAH):c.*19G>T rs372637021 0.00103
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.30C>G (p.Gly10=) rs1801145 0.00069
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.1056del (p.Glu353fs) rs62507350
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.1316-5T>C rs62509020
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.168G>A (p.Glu56=) rs199475567
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+305del rs3062651
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.414T>C (p.Tyr138=) rs1592968741
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.510-20_510-18dup rs398123293
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.821A>G (p.Lys274Arg) rs1875223959
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.913-5T>C
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
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.