ClinVar Miner

List of variants in gene FH studied for not provided

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Gene type:
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Total variants: 144
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HGVS dbSNP
NC_000001.11:g.241502088_241502097del
NM_000143.3(FH):c.-116G>A
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.3(FH):c.1048C>T (p.Arg350Trp) rs755436052
NM_000143.3(FH):c.1056dup (p.Leu353fs) rs863224016
NM_000143.3(FH):c.1061G>A (p.Gly354Glu) rs1057523184
NM_000143.3(FH):c.1067T>A (p.Leu356Ter) rs727503927
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.1097G>A (p.Ser366Asn) rs863224004
NM_000143.3(FH):c.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu) rs863223987
NM_000143.3(FH):c.1108+1G>T rs1057517734
NM_000143.3(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.1129T>C (p.Cys377Arg) rs398123161
NM_000143.3(FH):c.1139_1142del (p.Met380fs) rs863223988
NM_000143.3(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.3(FH):c.1146G>A (p.Met382Ile) rs863224006
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1189G>A (p.Gly397Arg) rs863224007
NM_000143.3(FH):c.1200del (p.Asn400fs) rs398123162
NM_000143.3(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.3(FH):c.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1236+14C>T rs149241949
NM_000143.3(FH):c.1236+292T>C
NM_000143.3(FH):c.1237-7C>T rs376260223
NM_000143.3(FH):c.1250T>G (p.Leu417Ter) rs1553340709
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.1263del (p.Arg421fs) rs863223989
NM_000143.3(FH):c.1268T>G (p.Leu423Arg) rs863224009
NM_000143.3(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.3(FH):c.1294_1336dup (p.Asn446fs) rs1553340686
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.1302C>A (p.Cys434Ter) rs2070080
NM_000143.3(FH):c.1302C>T (p.Cys434=) rs2070080
NM_000143.3(FH):c.1345_1348ATGA[1] (p.Asn450fs) rs863223990
NM_000143.3(FH):c.1355_1356CT[1] (p.Leu453fs) rs863223991
NM_000143.3(FH):c.1370_1371insTCAC (p.Ala458fs) rs863223992
NM_000143.3(FH):c.1390+1G>T rs886039367
NM_000143.3(FH):c.1391-158A>T
NM_000143.3(FH):c.1391-1G>C rs863223978
NM_000143.3(FH):c.1391-285A>G
NM_000143.3(FH):c.1391-2A>T rs863224008
NM_000143.3(FH):c.1391-2delA rs1064795320
NM_000143.3(FH):c.1394A>G (p.Tyr465Cys) rs863224010
NM_000143.3(FH):c.139C>T (p.Gln47Ter) rs863223980
NM_000143.3(FH):c.1400dup (p.Ala468fs) rs863223993
NM_000143.3(FH):c.1421C>G (p.Thr474Arg) rs369802820
NM_000143.3(FH):c.1430_1437dup (p.Ser480fs) rs863223994
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.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.3(FH):c.1446A>C (p.Leu482Phe) rs863223979
NM_000143.3(FH):c.1446_1449del (p.Glu484fs) rs398123165
NM_000143.3(FH):c.1473_1474TC[1] (p.Leu492fs) rs886041201
NM_000143.3(FH):c.1486C>T (p.Gln496Ter) rs1553340506
NM_000143.3(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.3(FH):c.1506dup (p.Pro503fs) rs886041202
NM_000143.3(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.3(FH):c.180A>G (p.Leu60=)
NM_000143.3(FH):c.194A>G (p.Asp65Gly) rs145116688
NM_000143.3(FH):c.1A>G (p.Met1Val) rs776806414
NM_000143.3(FH):c.208G>A (p.Ala70Thr) rs587782207
NM_000143.3(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.3(FH):c.221dup (p.Ser75fs) rs1553341951
NM_000143.3(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.3(FH):c.268-2A>G rs1064793741
NM_000143.3(FH):c.295_301del (p.Leu99fs) rs863224017
NM_000143.3(FH):c.301C>T (p.Arg101Ter) rs121913120
NM_000143.3(FH):c.302G>C (p.Arg101Pro) rs75086406
NM_000143.3(FH):c.309C>T (p.Ala103=) rs10926501
NM_000143.3(FH):c.312T>C (p.Ala104=)
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.346A>T (p.Ile116Phe) rs201532589
NM_000143.3(FH):c.349G>C (p.Ala117Pro) rs886039363
NM_000143.3(FH):c.379-214A>G
NM_000143.3(FH):c.390_394TAAAT[1] (p.Lys131_Leu132insTer) rs863223995
NM_000143.3(FH):c.403C>T (p.His135Tyr) rs1553341617
NM_000143.3(FH):c.431G>T (p.Gly144Val) rs1057521425
NM_000143.3(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.3(FH):c.439dup (p.Thr147fs) rs1060499633
NM_000143.3(FH):c.443dup (p.Thr149fs) rs1553341610
NM_000143.3(FH):c.473G>A (p.Ser158Asn) rs1060500902
NM_000143.3(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.527A>G (p.His176Arg) rs1158759883
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.555+1G>A rs1375252870
NM_000143.3(FH):c.555+5G>C rs1553341582
NM_000143.3(FH):c.556-1G>C rs794727698
NM_000143.3(FH):c.556_557delAG rs1131691235
NM_000143.3(FH):c.560C>G (p.Ser187Ter) rs398123166
NM_000143.3(FH):c.566A>T (p.Asp189Val) rs1064793125
NM_000143.3(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000143.3(FH):c.610C>A (p.His204Asn) rs863223996
NM_000143.3(FH):c.639G>A (p.Lys213=) rs377222193
NM_000143.3(FH):c.668A>C (p.Lys223Thr) rs1064795294
NM_000143.3(FH):c.668_669del (p.Lys223fs) rs886039364
NM_000143.3(FH):c.669A>G (p.Lys223=)
NM_000143.3(FH):c.675del (p.Phe225fs) rs1553341337
NM_000143.3(FH):c.695G>A (p.Gly232Glu) rs727503929
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>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.703C>T (p.His235Tyr) rs863223968
NM_000143.3(FH):c.706A>G (p.Thr236Ala) rs1064793126
NM_000143.3(FH):c.736C>T (p.Gln246Ter) rs863223998
NM_000143.3(FH):c.737del (p.Gln246fs) rs727503928
NM_000143.3(FH):c.738+265G>A
NM_000143.3(FH):c.739-200G>A
NM_000143.3(FH):c.739-240G>A
NM_000143.3(FH):c.760C>T (p.Gln254Ter) rs398123167
NM_000143.3(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.3(FH):c.797dup (p.Met266fs) rs863223981
NM_000143.3(FH):c.7C>G (p.Arg3Gly) rs202166344
NM_000143.3(FH):c.7C>T (p.Arg3Ter) rs202166344
NM_000143.3(FH):c.809_810del (p.Ile269_Tyr270insTer) rs1553341163
NM_000143.3(FH):c.816_836del (p.Ala273_Val279del) rs863223985
NM_000143.3(FH):c.817G>A (p.Ala273Thr) rs772190176
NM_000143.3(FH):c.81delinsAT (p.Leu28fs) rs1553342155
NM_000143.3(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.3(FH):c.879del (p.Ala294fs) rs1131691622
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.907T>G (p.Leu303Val) rs1057523697
NM_000143.3(FH):c.908T>C (p.Leu303Ser) rs201502246
NM_000143.3(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.3(FH):c.923C>G (p.Ala308Gly) rs1057524385
NM_000143.3(FH):c.927G>A (p.Pro309=) rs61737760
NM_000143.3(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.3(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.3(FH):c.937G>T (p.Glu313Ter) rs863224001
NM_000143.3(FH):c.944_945del (p.Leu315fs) rs886042044
NM_000143.3(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.3(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.3(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.3:c.904+47G>A

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