ClinVar Miner

List of variants studied for Tyrosinemia type I by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 579
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NM_000137.4(FAH):c.1180+4A>G rs60585303 0.04595
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000137.4(FAH):c.82-19G>A rs75733859 0.00966
NM_000137.4(FAH):c.483C>T (p.Gly161=) rs116272698 0.00943
NM_000137.4(FAH):c.855G>A (p.Pro285=) rs73481171 0.00927
NM_000137.4(FAH):c.165C>T (p.Leu55=) rs28733633 0.00811
NM_000137.4(FAH):c.139A>G (p.Lys47Glu) rs34749737 0.00650
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
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.1098G>A (p.Ser366=) rs35033541 0.00137
NM_000137.4(FAH):c.921A>G (p.Gly307=) rs76338717 0.00135
NM_000137.4(FAH):c.961-17G>A rs372657388 0.00133
NM_000137.4(FAH):c.456-20C>T rs75021564 0.00128
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.837+9A>T rs369092208 0.00053
NM_000137.4(FAH):c.81+12G>A rs200319726 0.00048
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.462C>A (p.His154Gln) rs144234072 0.00038
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
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.583C>G (p.Leu195Val) rs1002962662 0.00013
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.870C>T (p.Asp290=) rs377480457 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.1193G>A (p.Gly398Glu) rs141946827 0.00010
NM_000137.4(FAH):c.412G>A (p.Gly138Arg) rs143243347 0.00010
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000137.4(FAH):c.648C>A (p.Ile216=) rs147016995 0.00010
NM_000137.4(FAH):c.841C>A (p.Pro281Thr) rs199820704 0.00010
NM_000137.4(FAH):c.1097C>T (p.Ser366Leu) rs372685249 0.00009
NM_000137.4(FAH):c.1209C>T (p.Ile403=) rs111345782 0.00009
NM_000137.4(FAH):c.786G>A (p.Trp262Ter) rs80338899 0.00009
NM_000137.4(FAH):c.1008C>T (p.Asn336=) rs373285527 0.00008
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) rs121965075 0.00008
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp) rs970505762 0.00006
NM_000137.4(FAH):c.302A>G (p.Glu101Gly) rs758347578 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000137.4(FAH):c.1026G>A (p.Pro342=) rs748360797 0.00005
NM_000137.4(FAH):c.1022G>A (p.Arg341Gln) rs903038605 0.00004
NM_000137.4(FAH):c.1204C>T (p.Arg402Cys) rs780378868 0.00004
NM_000137.4(FAH):c.270T>C (p.Ser90=) rs1353456033 0.00004
NM_000137.4(FAH):c.322A>G (p.Ile108Val) rs747942022 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.484C>T (p.Arg162Cys) rs959533704 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.978G>T (p.Met326Ile) rs374655382 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.1A>G (p.Met1Val) rs1057517972 0.00003
NM_000137.4(FAH):c.82-3T>C rs368921640 0.00003
NM_000137.4(FAH):c.843C>G (p.Pro281=) rs755556442 0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) rs370634385 0.00003
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter) rs121965076 0.00002
NM_000137.4(FAH):c.1102A>C (p.Lys368Gln) rs770665329 0.00002
NM_000137.4(FAH):c.1125G>A (p.Leu375=) rs573995081 0.00002
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser) rs1297118863 0.00002
NM_000137.4(FAH):c.315-18C>G rs757360795 0.00002
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196 0.00002
NM_000137.4(FAH):c.398A>T (p.His133Leu) rs775152764 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.696C>T (p.Asn232=) rs533540262 0.00002
NM_000137.4(FAH):c.707-1G>A rs149052294 0.00002
NM_000137.4(FAH):c.709C>T (p.Arg237Ter) rs769550316 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.1025C>T (p.Pro342Leu) rs779040832 0.00001
NM_000137.4(FAH):c.1039G>A (p.Ala347Thr) rs376563006 0.00001
NM_000137.4(FAH):c.1057G>A (p.Gly353Arg) rs895743403 0.00001
NM_000137.4(FAH):c.1078G>A (p.Gly360Ser) rs779705179 0.00001
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.1159G>A (p.Gly387Arg) rs753539920 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.155G>A (p.Gly52Asp) rs780944655 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000137.4(FAH):c.233G>A (p.Trp78Ter) rs1268482591 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.315-3C>G rs1171235203 0.00001
NM_000137.4(FAH):c.315-9G>A rs768269250 0.00001
NM_000137.4(FAH):c.318A>G (p.Ala106=) rs141827305 0.00001
NM_000137.4(FAH):c.33C>T (p.Asp11=) rs1276283182 0.00001
NM_000137.4(FAH):c.372C>A (p.Tyr124Ter) rs1193030161 0.00001
NM_000137.4(FAH):c.387C>T (p.Ser129=) rs770974311 0.00001
NM_000137.4(FAH):c.3G>A (p.Met1Ile) rs766882348 0.00001
NM_000137.4(FAH):c.407A>G (p.Asn136Ser) rs768365621 0.00001
NM_000137.4(FAH):c.438del (p.Asn146fs) rs779642226 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.548_553+20del rs768180953 0.00001
NM_000137.4(FAH):c.553+7G>A rs2041210647 0.00001
NM_000137.4(FAH):c.692T>C (p.Met231Thr) rs772824887 0.00001
NM_000137.4(FAH):c.697G>A (p.Asp233Asn) rs144902834 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.742G>A (p.Gly248Arg) rs774861939 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.81+2T>A rs772895065 0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg) rs121965078 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.963C>A (p.Tyr321Ter) rs886044640 0.00001
NM_000137.4(FAH):c.982C>T (p.Gln328Ter) rs765134063 0.00001
NC_000015.10:g.(?_80177527)_(80186219_?)del
NC_000015.9:g.(?_80403807)_(81274523_?)dup
NC_000015.9:g.(?_80445385)_(80450748_?)del
NC_000015.9:g.(?_80445387)_(80445487_?)del
NC_000015.9:g.(?_80445387)_(80478561_?)del
NC_000015.9:g.(?_80445397)_(80460678_?)del
NC_000015.9:g.(?_80450382)_(80467453_?)dup
NC_000015.9:g.(?_80450392)_(80450522_?)del
NC_000015.9:g.(?_80450392)_(80454688_?)del
NC_000015.9:g.(?_80452078)_(80460678_?)del
NC_000015.9:g.(?_80460384)_(80460668_?)del
NC_000015.9:g.(?_80464481)_(80478561_?)del
NC_000015.9:g.(?_80465346)_(80465496_?)del
NC_000015.9:g.(?_80473374)_(80478561_?)del
NM_000137.4(FAH):c.1003G>A (p.Val335Ile)
NM_000137.4(FAH):c.1013G>A (p.Cys338Tyr)
NM_000137.4(FAH):c.1014del (p.Gly337_Cys338insTer)
NM_000137.4(FAH):c.1018C>T (p.Leu340=)
NM_000137.4(FAH):c.1025dup (p.Asp344fs) rs2041318487
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg) rs970505762
NM_000137.4(FAH):c.1029G>T (p.Gly343=)
NM_000137.4(FAH):c.102G>A (p.Val34=)
NM_000137.4(FAH):c.1030del (p.Asp344fs) rs747546798
NM_000137.4(FAH):c.1033del (p.Leu345fs)
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.1061C>T (p.Pro354Leu) rs143326948
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.1062G>A (p.Pro354=) rs767329352
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.1063-1G>A rs2041326700
NM_000137.4(FAH):c.1063-2A>G rs1555442385
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.1097_1099del (p.Ser366del)
NM_000137.4(FAH):c.1098G>T (p.Ser366=)
NM_000137.4(FAH):c.1116C>A (p.Pro372=)
NM_000137.4(FAH):c.111C>T (p.Gly37=)
NM_000137.4(FAH):c.1124T>C (p.Leu375Pro)
NM_000137.4(FAH):c.1134T>G (p.Gly378=)
NM_000137.4(FAH):c.1140C>T (p.Thr380=) rs2142108657
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly) rs121965077
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.1160G>A (p.Gly387Glu)
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+1G>A rs980415517
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.1181G>A (p.Gly394Glu)
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.1203C>A (p.Tyr401Ter) rs2041368952
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
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.1210G>C (p.Gly404Arg) rs1297118863
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His) rs1567123622
NM_000137.4(FAH):c.1221G>A (p.Gln407=)
NM_000137.4(FAH):c.122T>C (p.Leu41Pro) rs2041114940
NM_000137.4(FAH):c.1235T>A (p.Val412Glu) rs2142112670
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.128T>C (p.Leu43Pro)
NM_000137.4(FAH):c.129C>G (p.Leu43=)
NM_000137.4(FAH):c.129C>T (p.Leu43=)
NM_000137.4(FAH):c.12C>T (p.Ile4=)
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.14del (p.Pro5fs) rs1057517341
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.191del (p.Gln64fs) rs2142090831
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+1G>T rs786204683
NM_000137.4(FAH):c.192+9T>C rs1386784352
NM_000137.4(FAH):c.193-15_193-14del
NM_000137.4(FAH):c.193-16C>T
NM_000137.4(FAH):c.193-17C>A
NM_000137.4(FAH):c.193-8G>T rs2142091970
NM_000137.4(FAH):c.1A>C (p.Met1Leu) rs1057517972
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>G (p.Ala7=)
NM_000137.4(FAH):c.21C>T (p.Ala7=)
NM_000137.4(FAH):c.221del (p.Gly74fs) rs2041131954
NM_000137.4(FAH):c.224A>G (p.Gln75Arg)
NM_000137.4(FAH):c.23A>C (p.Glu8Ala) rs2041065243
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.256C>T (p.Gln86Ter)
NM_000137.4(FAH):c.257A>C (p.Gln86Pro)
NM_000137.4(FAH):c.258G>A (p.Gln86=)
NM_000137.4(FAH):c.268T>A (p.Ser90Thr)
NM_000137.4(FAH):c.269C>T (p.Ser90Phe)
NM_000137.4(FAH):c.272T>G (p.Val91Gly) rs1344024365
NM_000137.4(FAH):c.294T>C (p.Asp98=) rs1413778856
NM_000137.4(FAH):c.295G>A (p.Asp99Asn) rs1325951062
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.307C>T (p.Arg103Trp)
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.315-11C>T
NM_000137.4(FAH):c.315-12T>C
NM_000137.4(FAH):c.315-12T>G
NM_000137.4(FAH):c.315-13T>A
NM_000137.4(FAH):c.315-7G>A
NM_000137.4(FAH):c.315-9G>C
NM_000137.4(FAH):c.318A>C (p.Ala106=)
NM_000137.4(FAH):c.325del (p.Ser109fs)
NM_000137.4(FAH):c.328C>T (p.Gln110Ter) rs754444882
NM_000137.4(FAH):c.336T>A (p.Ser112=)
NM_000137.4(FAH):c.342G>A (p.Thr114=) rs773312072
NM_000137.4(FAH):c.342G>C (p.Thr114=)
NM_000137.4(FAH):c.343A>G (p.Met115Val)
NM_000137.4(FAH):c.348C>A (p.His116Gln)
NM_000137.4(FAH):c.348C>T (p.His116=)
NM_000137.4(FAH):c.34T>C (p.Phe12Leu)
NM_000137.4(FAH):c.354del (p.Ala119fs) rs2041138762
NM_000137.4(FAH):c.357C>T (p.Ala119=) rs2142092612
NM_000137.4(FAH):c.364+10G>C
NM_000137.4(FAH):c.364+12C>T
NM_000137.4(FAH):c.364+15T>C
NM_000137.4(FAH):c.364+18A>T
NM_000137.4(FAH):c.364+19C>G
NM_000137.4(FAH):c.364+19C>T
NM_000137.4(FAH):c.364+2T>C rs1595890740
NM_000137.4(FAH):c.364+2T>G rs1595890740
NM_000137.4(FAH):c.364+7G>T
NM_000137.4(FAH):c.364+9A>G
NM_000137.4(FAH):c.365-10del
NM_000137.4(FAH):c.365-10dup
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.365-2A>G
NM_000137.4(FAH):c.365-2_399dup
NM_000137.4(FAH):c.365-4G>A rs2041155157
NM_000137.4(FAH):c.365-4G>T
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.369C>A (p.Asp123Glu)
NM_000137.4(FAH):c.379_380dup (p.Tyr128fs)
NM_000137.4(FAH):c.382_383insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCCTGACCTCGTGAACCGCCCGCCTCGCCGTCCGAACGAGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTACACAGACTTCT (p.Tyr128delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)
NM_000137.4(FAH):c.386C>T (p.Ser129Phe)
NM_000137.4(FAH):c.38C>T (p.Pro13Leu) rs2142086863
NM_000137.4(FAH):c.395A>G (p.Gln132Arg)
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.424A>G (p.Arg142Gly) rs1420414848
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+1G>A
NM_000137.4(FAH):c.455+3A>T
NM_000137.4(FAH):c.455+6_455+10del
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.455G>A (p.Trp152Ter) rs1057516679
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.456-1G>A
NM_000137.4(FAH):c.456-2A>G rs1555441251
NM_000137.4(FAH):c.456-4T>G
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) rs370686447
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.484del (p.Arg162fs) rs2142097906
NM_000137.4(FAH):c.48C>T (p.Asn16=) rs1256559961
NM_000137.4(FAH):c.494C>G (p.Ser165Cys) rs2142097922
NM_000137.4(FAH):c.496G>C (p.Val166Leu)
NM_000137.4(FAH):c.497T>G (p.Val166Gly) rs778387055
NM_000137.4(FAH):c.49C>T (p.Leu17=) rs2041065702
NM_000137.4(FAH):c.501G>T (p.Val167=)
NM_000137.4(FAH):c.502G>A (p.Val168Met)
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.520C>T (p.Arg174Ter) rs781496816
NM_000137.4(FAH):c.525G>A (p.Arg175=)
NM_000137.4(FAH):c.529A>G (p.Met177Val)
NM_000137.4(FAH):c.52C>G (p.Pro18Ala)
NM_000137.4(FAH):c.532G>C (p.Gly178Arg) rs2041210221
NM_000137.4(FAH):c.534A>G (p.Gly178=) rs2142097990
NM_000137.4(FAH):c.535_536del (p.Gln179fs) rs2041210282
NM_000137.4(FAH):c.542_553+4dup rs746554047
NM_000137.4(FAH):c.543A>G (p.Lys181=) rs537190415
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+15C>A
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.553+1G>A
NM_000137.4(FAH):c.553+2del
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.566_606+62del
NM_000137.4(FAH):c.570T>C (p.Tyr190=) rs2142098208
NM_000137.4(FAH):c.576C>A (p.Ala192=)
NM_000137.4(FAH):c.580A>G (p.Lys194Glu)
NM_000137.4(FAH):c.582G>A (p.Lys194=)
NM_000137.4(FAH):c.587T>C (p.Leu196Ser)
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.59G>A (p.Gly20Asp)
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+1G>A rs773450608
NM_000137.4(FAH):c.606+20T>C
NM_000137.4(FAH):c.606+6T>C
NM_000137.4(FAH):c.606+8A>G rs1444983943
NM_000137.4(FAH):c.606+8A>T
NM_000137.4(FAH):c.607-10C>T rs2041245977
NM_000137.4(FAH):c.607-14C>A
NM_000137.4(FAH):c.607-17A>C
NM_000137.4(FAH):c.607-18A>G
NM_000137.4(FAH):c.607-1G>A rs771712041
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.607-6T>G rs80338896
NM_000137.4(FAH):c.607-8C>A
NM_000137.4(FAH):c.607-9C>T rs1325357461
NM_000137.4(FAH):c.608del (p.Ala203fs)
NM_000137.4(FAH):c.615T>A (p.Phe205Leu) rs2041246277
NM_000137.4(FAH):c.615del (p.Phe205fs) rs1057517084
NM_000137.4(FAH):c.615dup (p.Val206fs) rs1057517084
NM_000137.4(FAH):c.621C>T (p.Gly207=) rs1404777519
NM_000137.4(FAH):c.633A>T (p.Arg211Ser)
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.667G>T (p.Glu223Ter) rs2142101007
NM_000137.4(FAH):c.669G>A (p.Glu223=)
NM_000137.4(FAH):c.678T>G (p.Phe226Leu) rs2041247325
NM_000137.4(FAH):c.69G>A (p.Ser23=)
NM_000137.4(FAH):c.700T>G (p.Trp234Gly) rs1555441595
NM_000137.4(FAH):c.701G>A (p.Trp234Ter)
NM_000137.4(FAH):c.702G>A (p.Trp234Ter) rs765527687
NM_000137.4(FAH):c.704G>A (p.Ser235Asn)
NM_000137.4(FAH):c.706+16C>T
NM_000137.4(FAH):c.706+1G>A
NM_000137.4(FAH):c.706+20T>C
NM_000137.4(FAH):c.706+2T>G rs1555441597
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.707-1G>C rs149052294
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.710G>A (p.Arg237Gln) rs2041253905
NM_000137.4(FAH):c.721A>T (p.Lys241Ter) rs2142101647
NM_000137.4(FAH):c.726G>A (p.Trp242Ter) rs1567118987
NM_000137.4(FAH):c.72C>T (p.Thr24=) rs768146083
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)
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.744del (p.Pro249fs) rs750741137
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)
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.771C>A (p.Thr257=)
NM_000137.4(FAH):c.777C>T (p.Val259=)
NM_000137.4(FAH):c.778T>A (p.Ser260Thr)
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.79G>C (p.Asp27His)
NM_000137.4(FAH):c.801T>C (p.Asp267=) rs1342383488
NM_000137.4(FAH):c.807C>T (p.Leu269=)
NM_000137.4(FAH):c.808dup (p.Met270fs)
NM_000137.4(FAH):c.81+10G>A rs199733231
NM_000137.4(FAH):c.81+13G>T
NM_000137.4(FAH):c.81+16T>C
NM_000137.4(FAH):c.81+17T>C
NM_000137.4(FAH):c.81+2T>G rs772895065
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.82-1G>A rs1247460110
NM_000137.4(FAH):c.82-1G>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.82-8C>T
NM_000137.4(FAH):c.820G>C (p.Val274Leu)
NM_000137.4(FAH):c.825C>G (p.Pro275=)
NM_000137.4(FAH):c.827A>G (p.Asn276Ser)
NM_000137.4(FAH):c.827A>T (p.Asn276Ile)
NM_000137.4(FAH):c.82C>G (p.Pro28Ala)
NM_000137.4(FAH):c.830C>T (p.Pro277Leu)
NM_000137.4(FAH):c.837+13T>A
NM_000137.4(FAH):c.837+16G>A
NM_000137.4(FAH):c.837+17C>A
NM_000137.4(FAH):c.837+18A>G
NM_000137.4(FAH):c.837+5G>A
NM_000137.4(FAH):c.837G>A (p.Gln279=)
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.839del (p.Asp280fs)
NM_000137.4(FAH):c.843del (p.Arg282fs)
NM_000137.4(FAH):c.845G>A (p.Arg282Lys)
NM_000137.4(FAH):c.846G>A (p.Arg282=) rs886334563
NM_000137.4(FAH):c.850C>T (p.Leu284=)
NM_000137.4(FAH):c.854C>T (p.Pro285Leu)
NM_000137.4(FAH):c.855G>T (p.Pro285=) rs73481171
NM_000137.4(FAH):c.860del (p.Leu287fs) rs2142103306
NM_000137.4(FAH):c.866A>G (p.His289Arg)
NM_000137.4(FAH):c.876C>G (p.Pro292=) rs2142103332
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
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.910A>T (p.Lys304Ter) rs2041271608
NM_000137.4(FAH):c.913+10A>G rs2142103401
NM_000137.4(FAH):c.913+13G>A
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.914-1G>A rs2142105483
NM_000137.4(FAH):c.914-7C>T
NM_000137.4(FAH):c.921A>C (p.Gly307=)
NM_000137.4(FAH):c.932C>T (p.Ala311Val) rs529709868
NM_000137.4(FAH):c.932del (p.Ala311fs) rs2142105509
NM_000137.4(FAH):c.948G>A (p.Lys316=) rs2142105527
NM_000137.4(FAH):c.953A>G (p.Asn318Ser)
NM_000137.4(FAH):c.960+2T>C rs2142105542
NM_000137.4(FAH):c.960+5G>A
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.963C>G (p.Tyr321Ter)
NM_000137.4(FAH):c.969C>T (p.Tyr323=) rs1595897308
NM_000137.4(FAH):c.96dup (p.Gly33fs) rs2142090708
NM_000137.4(FAH):c.971G>A (p.Trp324Ter) rs2041316956
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000137.4(FAH):c.975G>A (p.Thr325=) rs776473288
NM_000137.4(FAH):c.977T>C (p.Met326Thr) rs2142107717
NM_000137.4(FAH):c.978dup (p.Leu327fs) rs1595897321
NM_000137.4(FAH):c.981G>A (p.Leu327=)

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