ClinVar Miner

List of variants in gene FAH reported as likely benign for disorder of tyrosine metabolism

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 323
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000137.4(FAH):c.554-20T>G rs199501793 0.00272
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_000137.4(FAH):c.961-17G>A rs372657388 0.00133
NM_000137.4(FAH):c.565G>A (p.Val189Ile) rs145389125 0.00108
NM_000137.4(FAH):c.1205G>A (p.Arg402His) rs147796599 0.00092
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_000137.4(FAH):c.181G>T (p.Val61Phe) rs151264725 0.00053
NM_000137.4(FAH):c.243G>A (p.Ala81=) rs36122289 0.00041
NM_000137.4(FAH):c.706+9T>C rs368042270 0.00041
NM_000137.4(FAH):c.409G>A (p.Val137Ile) rs139268254 0.00027
NM_000137.4(FAH):c.564C>T (p.Pro188=) rs149988384 0.00026
NM_000137.4(FAH):c.831G>A (p.Pro277=) rs372980573 0.00024
NM_000137.4(FAH):c.747A>G (p.Pro249=) rs138757552 0.00022
NM_000137.4(FAH):c.1181-17G>T rs376466730 0.00016
NM_000137.4(FAH):c.150T>C (p.Phe50=) rs186471906 0.00016
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627 0.00016
NM_000137.4(FAH):c.1077C>T (p.Phe359=) rs145570259 0.00012
NM_000137.4(FAH):c.715A>T (p.Ile239Phe) rs144228661 0.00012
NM_000137.4(FAH):c.864C>T (p.Cys288=) rs370273424 0.00012
NM_000137.4(FAH):c.553+15C>T rs368509674 0.00011
NM_000137.4(FAH):c.961-15G>A rs376633948 0.00011
NM_000137.4(FAH):c.996C>T (p.His332=) rs182877963 0.00011
NM_000137.4(FAH):c.648C>A (p.Ile216=) rs147016995 0.00010
NM_000137.4(FAH):c.1008C>T (p.Asn336=) rs373285527 0.00008
NM_000137.4(FAH):c.302A>G (p.Glu101Gly) rs758347578 0.00006
NM_000137.4(FAH):c.1026G>A (p.Pro342=) rs748360797 0.00005
NM_000137.4(FAH):c.270T>C (p.Ser90=) rs1353456033 0.00004
NM_000137.4(FAH):c.408C>T (p.Asn136=) rs111972793 0.00004
NM_000137.4(FAH):c.441G>A (p.Ala147=) rs141863249 0.00004
NM_000137.4(FAH):c.81+8G>A rs188046704 0.00004
NM_000137.4(FAH):c.82-14C>T rs746674102 0.00004
NM_000137.4(FAH):c.975G>C (p.Thr325=) rs776473288 0.00004
NM_000137.4(FAH):c.1029G>A (p.Gly343=) rs772334351 0.00003
NM_000137.4(FAH):c.10A>C (p.Ile4Leu) rs754336457 0.00003
NM_000137.4(FAH):c.126C>T (p.Asp42=) rs373120801 0.00003
NM_000137.4(FAH):c.192+18G>A rs772156602 0.00003
NM_000137.4(FAH):c.843C>G (p.Pro281=) rs755556442 0.00003
NM_000137.4(FAH):c.1125G>A (p.Leu375=) rs573995081 0.00002
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196 0.00002
NM_000137.4(FAH):c.411C>T (p.Val137=) rs757871102 0.00002
NM_000137.4(FAH):c.60C>A (p.Gly20=) rs749196943 0.00002
NM_000137.4(FAH):c.666T>C (p.His222=) rs768359308 0.00002
NM_000137.4(FAH):c.891C>T (p.Ile297=) rs1037374579 0.00002
NM_000137.4(FAH):c.961-18C>T rs781743677 0.00002
NM_000137.4(FAH):c.9C>T (p.Phe3=) rs1440066142 0.00002
NM_000137.4(FAH):c.1110G>A (p.Thr370=) rs765686036 0.00001
NM_000137.4(FAH):c.1113G>A (p.Lys371=) rs1171924945 0.00001
NM_000137.4(FAH):c.1119A>C (p.Ile373=) rs764155500 0.00001
NM_000137.4(FAH):c.1122C>T (p.Asp374=) rs1173090424 0.00001
NM_000137.4(FAH):c.1158C>T (p.Asp386=) rs767824538 0.00001
NM_000137.4(FAH):c.1180+10G>A rs758464032 0.00001
NM_000137.4(FAH):c.1188C>T (p.Cys396=) rs746752457 0.00001
NM_000137.4(FAH):c.1194G>A (p.Gly398=) rs780323996 0.00001
NM_000137.4(FAH):c.1236G>A (p.Val412=) rs761729916 0.00001
NM_000137.4(FAH):c.141G>A (p.Lys47=) rs1202678414 0.00001
NM_000137.4(FAH):c.237G>A (p.Lys79=) rs1490117712 0.00001
NM_000137.4(FAH):c.261C>T (p.Asn87=) rs763985544 0.00001
NM_000137.4(FAH):c.296A>G (p.Asp99Gly) rs547847694 0.00001
NM_000137.4(FAH):c.300C>T (p.Thr100=) rs567587933 0.00001
NM_000137.4(FAH):c.33C>T (p.Asp11=) rs1276283182 0.00001
NM_000137.4(FAH):c.387C>T (p.Ser129=) rs770974311 0.00001
NM_000137.4(FAH):c.442T>C (p.Leu148=) rs139430892 0.00001
NM_000137.4(FAH):c.455+19G>C rs774022499 0.00001
NM_000137.4(FAH):c.492C>T (p.Ser164=) rs754416947 0.00001
NM_000137.4(FAH):c.498C>T (p.Val166=) rs143712599 0.00001
NM_000137.4(FAH):c.528C>T (p.Pro176=) rs1299029114 0.00001
NM_000137.4(FAH):c.553+7G>A rs2041210647 0.00001
NM_000137.4(FAH):c.699C>T (p.Asp233=) rs1358109972 0.00001
NM_000137.4(FAH):c.723G>A (p.Lys241=) rs199995781 0.00001
NM_000137.4(FAH):c.729G>A (p.Glu243=) rs1283645707 0.00001
NM_000137.4(FAH):c.759G>A (p.Lys253=) rs750572597 0.00001
NM_000137.4(FAH):c.783G>A (p.Pro261=) rs777792671 0.00001
NM_000137.4(FAH):c.913+8G>A rs1245028497 0.00001
NM_000137.4(FAH):c.933G>A (p.Ala311=) rs375166793 0.00001
NM_000137.4(FAH):c.960+12C>T rs370507945 0.00001
NM_000137.4(FAH):c.1018C>T (p.Leu340=)
NM_000137.4(FAH):c.1029G>T (p.Gly343=)
NM_000137.4(FAH):c.102G>A (p.Val34=)
NM_000137.4(FAH):c.1036C>T (p.Leu346=)
NM_000137.4(FAH):c.1044T>C (p.Ser348=) rs2142107851
NM_000137.4(FAH):c.1059G>A (p.Gly353=)
NM_000137.4(FAH):c.1062+11G>C
NM_000137.4(FAH):c.1062+15G>C
NM_000137.4(FAH):c.1062+16C>T
NM_000137.4(FAH):c.1062+18C>T
NM_000137.4(FAH):c.1063-10T>C
NM_000137.4(FAH):c.1063-12C>T
NM_000137.4(FAH):c.1063-18C>T
NM_000137.4(FAH):c.1063-9G>T rs866653704
NM_000137.4(FAH):c.1068A>C (p.Pro356=) rs2142108569
NM_000137.4(FAH):c.1068A>G (p.Pro356=) rs2142108569
NM_000137.4(FAH):c.1080C>T (p.Gly360=)
NM_000137.4(FAH):c.1087T>C (p.Leu363=)
NM_000137.4(FAH):c.1098G>T (p.Ser366=)
NM_000137.4(FAH):c.1134T>G (p.Gly378=)
NM_000137.4(FAH):c.1140C>T (p.Thr380=) rs2142108657
NM_000137.4(FAH):c.1146G>A (p.Lys382=) rs2142108665
NM_000137.4(FAH):c.1152G>T (p.Leu384=) rs886051497
NM_000137.4(FAH):c.1161G>A (p.Gly387=) rs2142108682
NM_000137.4(FAH):c.1164T>C (p.Asp388=)
NM_000137.4(FAH):c.1180+10G>T
NM_000137.4(FAH):c.1180+18C>G
NM_000137.4(FAH):c.1180+7G>T
NM_000137.4(FAH):c.1180+9T>G
NM_000137.4(FAH):c.1181-10T>C
NM_000137.4(FAH):c.1181-18T>G
NM_000137.4(FAH):c.1181-7G>A rs750983382
NM_000137.4(FAH):c.1181-9C>G rs2142112575
NM_000137.4(FAH):c.1182G>A (p.Gly394=) rs2142112592
NM_000137.4(FAH):c.1182G>C (p.Gly394=)
NM_000137.4(FAH):c.1185C>T (p.Tyr395=) rs2142112598
NM_000137.4(FAH):c.1206C>T (p.Arg402=) rs2142112638
NM_000137.4(FAH):c.1209C>A (p.Ile403=)
NM_000137.4(FAH):c.120C>T (p.Ile40=)
NM_000137.4(FAH):c.1221G>A (p.Gln407=)
NM_000137.4(FAH):c.1239G>T (p.Leu413=) rs2142112674
NM_000137.4(FAH):c.1245T>G (p.Ala415=) rs2142112683
NM_000137.4(FAH):c.129C>G (p.Leu43=)
NM_000137.4(FAH):c.129C>T (p.Leu43=)
NM_000137.4(FAH):c.132C>T (p.Ser44=)
NM_000137.4(FAH):c.138C>T (p.Ile46=) rs2142090778
NM_000137.4(FAH):c.147C>G (p.Leu49=) rs886051496
NM_000137.4(FAH):c.15G>A (p.Pro5=)
NM_000137.4(FAH):c.162C>T (p.Val54=)
NM_000137.4(FAH):c.165C>G (p.Leu55=)
NM_000137.4(FAH):c.189T>C (p.Asn63=)
NM_000137.4(FAH):c.192+10T>C rs2142090839
NM_000137.4(FAH):c.192+13G>T
NM_000137.4(FAH):c.192+17C>T
NM_000137.4(FAH):c.192+19A>C
NM_000137.4(FAH):c.192+9T>C rs1386784352
NM_000137.4(FAH):c.193-15_193-14del
NM_000137.4(FAH):c.193-8G>T rs2142091970
NM_000137.4(FAH):c.201C>T (p.Leu67=) rs779516322
NM_000137.4(FAH):c.207C>T (p.Ser69=)
NM_000137.4(FAH):c.210C>T (p.Phe70=) rs2142091985
NM_000137.4(FAH):c.21C>T (p.Ala7=)
NM_000137.4(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.4(FAH):c.252C>T (p.Phe84=) rs2041132568
NM_000137.4(FAH):c.253T>C (p.Leu85=) rs2142092035
NM_000137.4(FAH):c.258G>A (p.Gln86=)
NM_000137.4(FAH):c.294T>C (p.Asp98=) rs1413778856
NM_000137.4(FAH):c.297C>T (p.Asp99=) rs1595890511
NM_000137.4(FAH):c.306T>C (p.Leu102=) rs2041133609
NM_000137.4(FAH):c.307C>A (p.Arg103=)
NM_000137.4(FAH):c.309G>A (p.Arg103=) rs771117713
NM_000137.4(FAH):c.30C>T (p.Ser10=) rs1051057226
NM_000137.4(FAH):c.312G>A (p.Lys104=) rs1203041732
NM_000137.4(FAH):c.314+11C>G
NM_000137.4(FAH):c.314+11C>T
NM_000137.4(FAH):c.314+12G>A
NM_000137.4(FAH):c.314+12G>T
NM_000137.4(FAH):c.314+14G>T
NM_000137.4(FAH):c.314+18A>C
NM_000137.4(FAH):c.314+18A>T
NM_000137.4(FAH):c.314+20del
NM_000137.4(FAH):c.365-10del
NM_000137.4(FAH):c.365-11T>C
NM_000137.4(FAH):c.365-12T>C
NM_000137.4(FAH):c.365-15G>A
NM_000137.4(FAH):c.365-17G>T
NM_000137.4(FAH):c.365-18T>G
NM_000137.4(FAH):c.365-4G>A rs2041155157
NM_000137.4(FAH):c.365-5T>C
NM_000137.4(FAH):c.365-8C>G
NM_000137.4(FAH):c.365-9C>A
NM_000137.4(FAH):c.365-9C>T
NM_000137.4(FAH):c.396G>A (p.Gln132=)
NM_000137.4(FAH):c.402T>G (p.Ala134=)
NM_000137.4(FAH):c.414A>G (p.Gly138=) rs2142093995
NM_000137.4(FAH):c.441G>T (p.Ala147=) rs141863249
NM_000137.4(FAH):c.455+10G>A
NM_000137.4(FAH):c.455+12G>A
NM_000137.4(FAH):c.455+18T>C
NM_000137.4(FAH):c.455+19G>A
NM_000137.4(FAH):c.455+6_455+10del
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.456-10C>G
NM_000137.4(FAH):c.456-10C>T rs2142097863
NM_000137.4(FAH):c.456-14C>A
NM_000137.4(FAH):c.456-4T>G
NM_000137.4(FAH):c.457C>T (p.Leu153=) rs2142097876
NM_000137.4(FAH):c.462C>T (p.His154=)
NM_000137.4(FAH):c.480T>C (p.His160=) rs2041209431
NM_000137.4(FAH):c.48C>T (p.Asn16=) rs1256559961
NM_000137.4(FAH):c.49C>T (p.Leu17=) rs2041065702
NM_000137.4(FAH):c.501G>T (p.Val167=)
NM_000137.4(FAH):c.513C>T (p.Thr171=) rs2142097954
NM_000137.4(FAH):c.519C>A (p.Ile173=) rs2142097962
NM_000137.4(FAH):c.51G>A (p.Leu17=) rs756012361
NM_000137.4(FAH):c.525G>A (p.Arg175=)
NM_000137.4(FAH):c.534A>G (p.Gly178=) rs2142097990
NM_000137.4(FAH):c.549T>C (p.Asp183=)
NM_000137.4(FAH):c.54C>A (p.Pro18=) rs2142086887
NM_000137.4(FAH):c.553+11G>A
NM_000137.4(FAH):c.553+11G>T
NM_000137.4(FAH):c.553+16G>A
NM_000137.4(FAH):c.553+16G>T
NM_000137.4(FAH):c.553+17T>C
NM_000137.4(FAH):c.554-10G>A rs765115302
NM_000137.4(FAH):c.554-12G>A
NM_000137.4(FAH):c.554-15C>T rs774367598
NM_000137.4(FAH):c.554-15dup
NM_000137.4(FAH):c.554-16T>C
NM_000137.4(FAH):c.554-17_554-16insA
NM_000137.4(FAH):c.554-4C>G rs1308165232
NM_000137.4(FAH):c.554-6T>C rs2041212398
NM_000137.4(FAH):c.558G>A (p.Lys186=)
NM_000137.4(FAH):c.564C>G (p.Pro188=) rs149988384
NM_000137.4(FAH):c.570T>C (p.Tyr190=) rs2142098208
NM_000137.4(FAH):c.576C>A (p.Ala192=)
NM_000137.4(FAH):c.582G>A (p.Lys194=)
NM_000137.4(FAH):c.588G>A (p.Leu196=) rs1435460132
NM_000137.4(FAH):c.591C>T (p.Asp197=)
NM_000137.4(FAH):c.597G>A (p.Glu199=) rs2142098244
NM_000137.4(FAH):c.598C>T (p.Leu200=) rs2041213194
NM_000137.4(FAH):c.606+10C>T rs2142098259
NM_000137.4(FAH):c.606+11T>A
NM_000137.4(FAH):c.606+11T>C
NM_000137.4(FAH):c.606+14A>C
NM_000137.4(FAH):c.606+16G>C
NM_000137.4(FAH):c.606+17T>G
NM_000137.4(FAH):c.606+20T>C
NM_000137.4(FAH):c.606+8A>G rs1444983943
NM_000137.4(FAH):c.607-10C>T rs2041245977
NM_000137.4(FAH):c.607-17A>C
NM_000137.4(FAH):c.607-18A>G
NM_000137.4(FAH):c.607-20T>A
NM_000137.4(FAH):c.607-4T>A rs2142100909
NM_000137.4(FAH):c.607-5G>A rs2142100907
NM_000137.4(FAH):c.607-8C>A
NM_000137.4(FAH):c.607-9C>T rs1325357461
NM_000137.4(FAH):c.621C>T (p.Gly207=) rs1404777519
NM_000137.4(FAH):c.634T>C (p.Leu212=) rs1337693496
NM_000137.4(FAH):c.63C>T (p.Val21=) rs2142086898
NM_000137.4(FAH):c.642G>A (p.Glu214=)
NM_000137.4(FAH):c.645G>A (p.Pro215=) rs151221329
NM_000137.4(FAH):c.645G>C (p.Pro215=) rs151221329
NM_000137.4(FAH):c.645G>T (p.Pro215=) rs151221329
NM_000137.4(FAH):c.648C>G (p.Ile216Met) rs147016995
NM_000137.4(FAH):c.663C>A (p.Ala221=) rs370892975
NM_000137.4(FAH):c.663C>T (p.Ala221=) rs370892975
NM_000137.4(FAH):c.669G>A (p.Glu223=)
NM_000137.4(FAH):c.69G>A (p.Ser23=)
NM_000137.4(FAH):c.706+16C>T
NM_000137.4(FAH):c.706+20T>C
NM_000137.4(FAH):c.707-10T>C
NM_000137.4(FAH):c.707-12C>T
NM_000137.4(FAH):c.707-13C>T
NM_000137.4(FAH):c.707-7_707-5del rs779284513
NM_000137.4(FAH):c.707-8T>G
NM_000137.4(FAH):c.709C>A (p.Arg237=)
NM_000137.4(FAH):c.72C>T (p.Thr24=) rs768146083
NM_000137.4(FAH):c.732T>C (p.Tyr244=) rs2041254296
NM_000137.4(FAH):c.735C>A (p.Val245=) rs1399119821
NM_000137.4(FAH):c.735C>G (p.Val245=)
NM_000137.4(FAH):c.738T>G (p.Pro246=) rs2142101669
NM_000137.4(FAH):c.741C>G (p.Leu247=) rs145851627
NM_000137.4(FAH):c.747A>C (p.Pro249=)
NM_000137.4(FAH):c.753T>C (p.Leu251=) rs2142101706
NM_000137.4(FAH):c.756G>A (p.Gly252=) rs202041382
NM_000137.4(FAH):c.768G>C (p.Gly256=)
NM_000137.4(FAH):c.783G>T (p.Pro261=) rs777792671
NM_000137.4(FAH):c.789G>C (p.Val263=) rs2142101764
NM_000137.4(FAH):c.801T>C (p.Asp267=) rs1342383488
NM_000137.4(FAH):c.807C>T (p.Leu269=)
NM_000137.4(FAH):c.81+10G>A rs199733231
NM_000137.4(FAH):c.81+16T>C
NM_000137.4(FAH):c.81+17T>C
NM_000137.4(FAH):c.81+9T>A
NM_000137.4(FAH):c.82-11C>T
NM_000137.4(FAH):c.82-16G>A
NM_000137.4(FAH):c.82-19G>C
NM_000137.4(FAH):c.82-20C>T
NM_000137.4(FAH):c.82-4C>T
NM_000137.4(FAH):c.82-5C>A
NM_000137.4(FAH):c.82-5C>G rs1446141136
NM_000137.4(FAH):c.82-5_82-3del
NM_000137.4(FAH):c.825C>G (p.Pro275=)
NM_000137.4(FAH):c.837+13T>A
NM_000137.4(FAH):c.837+17C>A
NM_000137.4(FAH):c.837+18A>G
NM_000137.4(FAH):c.838-10G>C rs759821435
NM_000137.4(FAH):c.838-10G>T
NM_000137.4(FAH):c.838-11T>C
NM_000137.4(FAH):c.838-15G>A
NM_000137.4(FAH):c.838-19C>T
NM_000137.4(FAH):c.838-28_838-15del rs2142103223
NM_000137.4(FAH):c.838-9C>T
NM_000137.4(FAH):c.846G>A (p.Arg282=) rs886334563
NM_000137.4(FAH):c.850C>T (p.Leu284=)
NM_000137.4(FAH):c.855G>T (p.Pro285=) rs73481171
NM_000137.4(FAH):c.876C>G (p.Pro292=) rs2142103332
NM_000137.4(FAH):c.87A>G (p.Arg29=)
NM_000137.4(FAH):c.882A>G (p.Thr294=) rs2142103341
NM_000137.4(FAH):c.894C>T (p.Asn298=)
NM_000137.4(FAH):c.897C>T (p.Leu299=) rs947679755
NM_000137.4(FAH):c.906C>T (p.Asn302=) rs2142103372
NM_000137.4(FAH):c.909G>C (p.Leu303=) rs2142103381
NM_000137.4(FAH):c.90G>A (p.Pro30=) rs202195651
NM_000137.4(FAH):c.90G>C (p.Pro30=) rs202195651
NM_000137.4(FAH):c.913+10A>G rs2142103401
NM_000137.4(FAH):c.913+13G>C
NM_000137.4(FAH):c.913+14G>A
NM_000137.4(FAH):c.913+15G>T
NM_000137.4(FAH):c.913+16A>G
NM_000137.4(FAH):c.913+17C>A
NM_000137.4(FAH):c.913+8G>T
NM_000137.4(FAH):c.914-10T>C rs1272034690
NM_000137.4(FAH):c.914-7C>T
NM_000137.4(FAH):c.921A>C (p.Gly307=)
NM_000137.4(FAH):c.948G>A (p.Lys316=) rs2142105527
NM_000137.4(FAH):c.961-11A>G
NM_000137.4(FAH):c.961-13C>T
NM_000137.4(FAH):c.961-16C>T rs780170029
NM_000137.4(FAH):c.961-18C>G
NM_000137.4(FAH):c.961-20C>G rs2142107661
NM_000137.4(FAH):c.961-5T>C rs2142107684
NM_000137.4(FAH):c.961-8G>T rs932983420
NM_000137.4(FAH):c.969C>T (p.Tyr323=) rs1595897308
NM_000137.4(FAH):c.975G>A (p.Thr325=) rs776473288
NM_000137.4(FAH):c.981G>A (p.Leu327=)

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