ClinVar Miner

List of variants in gene FH studied for Hereditary cancer-predisposing syndrome

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Total variants: 166
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HGVS dbSNP
NM_000143.3(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.3(FH):c.1003C>T (p.Leu335=) rs1203364199
NM_000143.3(FH):c.1007T>G (p.Met336Arg) rs863223972
NM_000143.3(FH):c.1013T>C (p.Ile338Thr) rs201975537
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1023T>C (p.Asp341=) rs863223973
NM_000143.3(FH):c.1023T>G (p.Asp341Glu) rs863223973
NM_000143.3(FH):c.1025T>C (p.Ile342Thr) rs201383596
NM_000143.3(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.3(FH):c.1041del (p.Gly348fs) rs1060499641
NM_000143.3(FH):c.1045C>G (p.Pro349Ala) rs1254962869
NM_000143.3(FH):c.1046C>G (p.Pro349Arg) rs1553341017
NM_000143.3(FH):c.1049G>A (p.Arg350Gln) rs749316923
NM_000143.3(FH):c.1052C>G (p.Ser351Ter) rs1060500896
NM_000143.3(FH):c.1056dup (p.Leu353fs) rs863224016
NM_000143.3(FH):c.105G>A (p.Ser35=) rs181655698
NM_000143.3(FH):c.1077T>A (p.Pro359=) rs750535216
NM_000143.3(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.3(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.3(FH):c.1094G>A (p.Ser365Asn) rs1131691238
NM_000143.3(FH):c.1120C>A (p.Pro374Thr) rs876660446
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.1138A>G (p.Met380Val) rs587778362
NM_000143.3(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.3(FH):c.1163T>C (p.Met388Thr) rs876660830
NM_000143.3(FH):c.1198A>G (p.Asn400Asp) rs1131691247
NM_000143.3(FH):c.1199A>G (p.Asn400Ser) rs764430466
NM_000143.3(FH):c.120C>T (p.Asn40=) rs876658186
NM_000143.3(FH):c.1216A>G (p.Asn406Asp) rs876659362
NM_000143.3(FH):c.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1236+1G>C rs1131691249
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.3(FH):c.1293A>G (p.Thr431=) rs772800627
NM_000143.3(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.3(FH):c.12A>G (p.Ala4=) rs201277370
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.1302C>T (p.Cys434=) rs2070080
NM_000143.3(FH):c.1303G>A (p.Val435Met) rs147528200
NM_000143.3(FH):c.1314C>T (p.Ile438=) rs140873869
NM_000143.3(FH):c.132+5G>A rs1060499627
NM_000143.3(FH):c.132G>A (p.Met44Ile) rs863223982
NM_000143.3(FH):c.1339A>T (p.Lys447Ter) rs863223977
NM_000143.3(FH):c.1345_1348ATGA[3] (p.Ser452_Leu453insTer) rs863223990
NM_000143.3(FH):c.134del (p.Ala45fs) rs1131691237
NM_000143.3(FH):c.1366G>C (p.Val456Leu) rs200244096
NM_000143.3(FH):c.1370_1371insTCAC (p.Ala458fs) rs863223992
NM_000143.3(FH):c.1389A>G (p.Ile463Met) rs876659472
NM_000143.3(FH):c.1391-2A>T rs863224008
NM_000143.3(FH):c.1391G>A (p.Gly464Glu) rs1131691250
NM_000143.3(FH):c.139C>T (p.Gln47Ter) rs863223980
NM_000143.3(FH):c.13C>T (p.Leu5Phe) rs1553342165
NM_000143.3(FH):c.1428C>T (p.His476=) rs199887605
NM_000143.3(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.3(FH):c.1434T>C (p.Asn478=) rs786202199
NM_000143.3(FH):c.1439C>G (p.Ser480Ter) rs1131691245
NM_000143.3(FH):c.1462G>A (p.Glu488Lys) rs201115573
NM_000143.3(FH):c.1472A>G (p.Tyr491Cys) rs773801940
NM_000143.3(FH):c.1473_1474TC[1] (p.Leu492fs) rs886041201
NM_000143.3(FH):c.1480G>C (p.Ala494Pro) rs1553340508
NM_000143.3(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.3(FH):c.1506dup (p.Pro503fs) rs886041202
NM_000143.3(FH):c.1526C>T (p.Pro509Leu) rs1553340499
NM_000143.3(FH):c.154A>T (p.Ile52Leu) rs543844061
NM_000143.3(FH):c.174_177dup (p.Leu60Ter) rs1131691246
NM_000143.3(FH):c.190A>G (p.Asn64Asp) rs886046319
NM_000143.3(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.3(FH):c.204T>A (p.Tyr68Ter) rs1060500883
NM_000143.3(FH):c.207C>T (p.Gly69=) rs370392829
NM_000143.3(FH):c.208G>A (p.Ala70Thr) rs587782207
NM_000143.3(FH):c.217G>A (p.Val73Met) rs201878591
NM_000143.3(FH):c.222A>T (p.Arg74Ser) rs146739519
NM_000143.3(FH):c.237dup (p.Lys80Ter) rs1553341945
NM_000143.3(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.3(FH):c.259C>T (p.Arg87Cys) rs139642944
NM_000143.3(FH):c.26C>G (p.Ala9Gly) rs766915154
NM_000143.3(FH):c.270C>G (p.Thr90=) rs748852152
NM_000143.3(FH):c.27G>A (p.Ala9=) rs983362570
NM_000143.3(FH):c.2T>G (p.Met1Arg) rs201261794
NM_000143.3(FH):c.301C>T (p.Arg101Ter) rs121913120
NM_000143.3(FH):c.305C>T (p.Ala102Val) rs61753295
NM_000143.3(FH):c.306G>A (p.Ala102=) rs142283468
NM_000143.3(FH):c.309C>T (p.Ala103=) rs10926501
NM_000143.3(FH):c.316del (p.Glu105_Val106insTer) rs876658569
NM_000143.3(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.3(FH):c.33G>C (p.Ser11=) rs200542051
NM_000143.3(FH):c.346A>T (p.Ile116Phe) rs201532589
NM_000143.3(FH):c.357A>C (p.Ala119=) rs767209674
NM_000143.3(FH):c.358A>G (p.Ile120Val) rs199641124
NM_000143.3(FH):c.378+2T>C rs1131691241
NM_000143.3(FH):c.379-2A>G rs1131691240
NM_000143.3(FH):c.37C>T (p.Pro13Ser) rs587778360
NM_000143.3(FH):c.399T>C (p.Asn133=) rs376056309
NM_000143.3(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.3(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.3(FH):c.412C>G (p.Leu138Val) rs1466082062
NM_000143.3(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.3(FH):c.450T>A (p.Asn150Lys) rs1131691242
NM_000143.3(FH):c.456T>C (p.Asn152=) rs876658403
NM_000143.3(FH):c.468C>A (p.Val156=) rs202061330
NM_000143.3(FH):c.49G>C (p.Ala17Pro) rs755886213
NM_000143.3(FH):c.50C>T (p.Ala17Val) rs111548093
NM_000143.3(FH):c.520C>A (p.Pro174Thr) rs1553341598
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.534C>T (p.Asn178=) rs375878939
NM_000143.3(FH):c.535G>A (p.Asp179Asn) rs1553341588
NM_000143.3(FH):c.539A>G (p.His180Arg) rs863224015
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000143.3(FH):c.553_554insTG (p.Gln185fs) rs768182640
NM_000143.3(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.3(FH):c.556A>T (p.Ser186Cys) rs1131691233
NM_000143.3(FH):c.556_557delAG rs1131691235
NM_000143.3(FH):c.557G>A (p.Ser186Asn) rs587782618
NM_000143.3(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.563del (p.Asn188fs) rs1131691248
NM_000143.3(FH):c.578_583del (p.Thr193_Ala194del) rs1060499635
NM_000143.3(FH):c.580G>A (p.Ala194Thr) rs587782215
NM_000143.3(FH):c.586C>T (p.His196Tyr) rs1553341363
NM_000143.3(FH):c.587A>G (p.His196Arg) rs763601207
NM_000143.3(FH):c.591_593TGC[2] (p.Ala200del) rs786202907
NM_000143.3(FH):c.593C>G (p.Ala198Gly) rs1414507017
NM_000143.3(FH):c.62C>G (p.Ala21Gly) rs1131691251
NM_000143.3(FH):c.63C>T (p.Ala21=) rs555404867
NM_000143.3(FH):c.648T>A (p.Asp216Glu) rs199536615
NM_000143.3(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.3(FH):c.692T>C (p.Ile231Thr) rs1335587342
NM_000143.3(FH):c.697C>T (p.Arg233Cys) rs587781682
NM_000143.3(FH):c.698G>A (p.Arg233His) rs121913123
NM_000143.3(FH):c.6C>G (p.Tyr2Ter) rs199971078
NM_000143.3(FH):c.6C>T (p.Tyr2=) rs199971078
NM_000143.3(FH):c.700A>G (p.Thr234Ala) rs372505976
NM_000143.3(FH):c.702T>G (p.Thr234=) rs201083387
NM_000143.3(FH):c.722C>T (p.Pro241Leu) rs1553341319
NM_000143.3(FH):c.739G>T (p.Glu247Ter) rs1131691243
NM_000143.3(FH):c.757C>T (p.Gln253Ter) rs1131691239
NM_000143.3(FH):c.767A>C (p.Lys256Thr) rs978988174
NM_000143.3(FH):c.773C>T (p.Ala258Val) rs1553341166
NM_000143.3(FH):c.77C>T (p.Pro26Leu) rs187226800
NM_000143.3(FH):c.782G>T (p.Arg261Ile) rs61736558
NM_000143.3(FH):c.785T>G (p.Ile262Arg) rs786203177
NM_000143.3(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.3(FH):c.7C>G (p.Arg3Gly) rs202166344
NM_000143.3(FH):c.805A>G (p.Ile269Val) rs377015873
NM_000143.3(FH):c.805del (p.Ile269fs) rs1131691234
NM_000143.3(FH):c.809A>G (p.Tyr270Cys) rs202060616
NM_000143.3(FH):c.814C>A (p.Leu272Ile) rs779019570
NM_000143.3(FH):c.817G>A (p.Ala273Thr) rs772190176
NM_000143.3(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.883G>A (p.Ala295Thr) rs145843819
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.897A>G (p.Ala299=) rs1553341151
NM_000143.3(FH):c.905-1G>A rs797044973
NM_000143.3(FH):c.905-1G>C rs797044973
NM_000143.3(FH):c.908T>C (p.Leu303Ser) rs201502246
NM_000143.3(FH):c.917T>C (p.Val306Ala) rs147991516
NM_000143.3(FH):c.925C>T (p.Pro309Ser) rs368849989
NM_000143.3(FH):c.927G>A (p.Pro309=) rs61737760
NM_000143.3(FH):c.92C>T (p.Ala31Val) rs876659347
NM_000143.3(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.3(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.3(FH):c.94G>T (p.Ala32Ser) rs1371664717
NM_000143.3(FH):c.957C>T (p.Asp319=) rs146751488
NM_000143.3(FH):c.986A>G (p.Asn329Ser) rs768483509
NM_000143.3(FH):c.98T>G (p.Val33Gly) rs1319755767

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