ClinVar Miner

List of variants in gene FH reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 273
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000143.4(FH):c.65T>G (p.Leu22Ter) rs1031919395 0.00002
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg) rs863224007 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys) rs863224010 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000143.4(FH):c.431G>A (p.Gly144Glu) rs1057521425 0.00001
NM_000143.4(FH):c.553_554insTG (p.Gln185fs) rs768182640 0.00001
NM_000143.4(FH):c.560C>G (p.Ser187Ter) rs398123166 0.00001
NM_000143.4(FH):c.583A>G (p.Met195Val) rs1553341364 0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys) rs587781682 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000143.4(FH):c.914T>C (p.Phe305Ser) rs1439046582 0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly) rs1057524385 0.00001
NC_000001.10:g.(?_241661128)_(241661280_?)del
NC_000001.10:g.(?_241661128)_(241667555_?)del
NC_000001.10:g.(?_241663727)_(241663900_?)del
NC_000001.10:g.(?_241665733)_(241667555_?)del
NC_000001.10:g.(?_241680472)_(241683022_?)del
NC_000001.10:g.(?_241682881)_(241683022_?)del
NC_000001.11:g.(?_241497557)_(241504245_?)del
NC_000001.11:g.(?_241497818)_(241502580_?)del
NC_000001.11:g.(?_241497818)_(241504255_?)del
NC_000001.11:g.(?_241497818)_(241508795_?)del
NC_000001.11:g.(?_241497818)_(241512153_?)del
NC_000001.11:g.(?_241505993)_(241506178_?)del
NC_000001.11:g.(?_241505993)_(241506183_?)del
NC_000001.11:g.(?_241505997)_(241506174_?)del
NC_000001.11:g.(?_241519581)_(241519732_?)del
NC_000001.11:g.(?_241519585)_(241519728_?)del
NC_000001.11:g.241497971del rs2147911365
NM_000143.4(FH):c.1000dup (p.Ser334fs) rs1659853029
NM_000143.4(FH):c.1015del (p.Ala339fs)
NM_000143.4(FH):c.1019del (p.Asn340fs)
NM_000143.4(FH):c.1021G>A (p.Asp341Asn) rs11545655
NM_000143.4(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000143.4(FH):c.1023T>G (p.Asp341Glu) rs863223973
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.4(FH):c.1028del (p.Arg343fs) rs1553341026
NM_000143.4(FH):c.102_120del (p.Ser35fs) rs2147926843
NM_000143.4(FH):c.102del (p.Ser35fs) rs2147926893
NM_000143.4(FH):c.102dup (p.Ser35fs)
NM_000143.4(FH):c.1037G>A (p.Gly346Asp) rs2147916135
NM_000143.4(FH):c.1039T>C (p.Ser347Pro)
NM_000143.4(FH):c.1041del (p.Gly348fs) rs1060499641
NM_000143.4(FH):c.1052C>A (p.Ser351Ter) rs1060500896
NM_000143.4(FH):c.1052C>G (p.Ser351Ter) rs1060500896
NM_000143.4(FH):c.1058_1108+19del
NM_000143.4(FH):c.1063G>T (p.Glu355Ter) rs1060499642
NM_000143.4(FH):c.1082del (p.Asn361fs) rs1553341012
NM_000143.4(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.4(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.4(FH):c.1094G>A (p.Ser365Asn) rs1131691238
NM_000143.4(FH):c.1097G>A (p.Ser366Asn) rs863224004
NM_000143.4(FH):c.109del (p.Trp37fs) rs2147926875
NM_000143.4(FH):c.1105C>T (p.Pro369Ser)
NM_000143.4(FH):c.1108+1G>A rs1057517734
NM_000143.4(FH):c.1108+1G>T rs1057517734
NM_000143.4(FH):c.1112del (p.Lys371fs) rs1060500904
NM_000143.4(FH):c.1138del (p.Ala379_Met380insTer) rs781466938
NM_000143.4(FH):c.1138dup (p.Met380fs) rs781466938
NM_000143.4(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1156C>T (p.Gln386Ter)
NM_000143.4(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.4(FH):c.1165_1174del (p.Gly389fs) rs1573879313
NM_000143.4(FH):c.1167del (p.Asn390fs)
NM_000143.4(FH):c.1176_1181del (p.Ala393_Val394del) rs1659806431
NM_000143.4(FH):c.1177G>C (p.Ala393Pro) rs2147914910
NM_000143.4(FH):c.1196G>A (p.Ser399Asn) rs1659805662
NM_000143.4(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.4(FH):c.1205del (p.His402fs) rs1558397011
NM_000143.4(FH):c.1209del (p.Phe403fs) rs1060499644
NM_000143.4(FH):c.120_130del (p.Ala41fs) rs1573889860
NM_000143.4(FH):c.1210G>T (p.Glu404Ter) rs797044974
NM_000143.4(FH):c.1236+1G>A rs1131691249
NM_000143.4(FH):c.1236+1G>C rs1131691249
NM_000143.4(FH):c.1238_1239dup (p.Lys414fs)
NM_000143.4(FH):c.1240A>T (p.Lys414Ter) rs1573878145
NM_000143.4(FH):c.1247del (p.Val416fs) rs2147913368
NM_000143.4(FH):c.1251dup (p.His418fs) rs1553340708
NM_000143.4(FH):c.1259_1262dup (p.Arg421fs) rs2147913317
NM_000143.4(FH):c.1267_1268delinsG (p.Leu423fs)
NM_000143.4(FH):c.1269_1278del (p.Gly424fs)
NM_000143.4(FH):c.127C>T (p.Arg43Ter) rs200496951
NM_000143.4(FH):c.1280del (p.Ala426_Ser427insTer) rs2147913263
NM_000143.4(FH):c.1287del (p.Phe430fs) rs1659746788
NM_000143.4(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs) rs1553340686
NM_000143.4(FH):c.1298del (p.Asn433fs)
NM_000143.4(FH):c.1300T>C (p.Cys434Arg) rs1659745968
NM_000143.4(FH):c.1302_1303del (p.Val435fs)
NM_000143.4(FH):c.1310del (p.Gly437fs) rs2147913184
NM_000143.4(FH):c.1327G>T (p.Glu443Ter) rs1553340687
NM_000143.4(FH):c.1328_1331dup (p.Ile445fs) rs1573878004
NM_000143.4(FH):c.132G>A (p.Met44Ile) rs863223982
NM_000143.4(FH):c.1330A>G (p.Arg444Gly) rs749266351
NM_000143.4(FH):c.1339A>T (p.Lys447Ter) rs863223977
NM_000143.4(FH):c.1346del (p.Met449fs)
NM_000143.4(FH):c.1347del (p.Met449fs) rs1060500903
NM_000143.4(FH):c.1351G>T (p.Glu451Ter) rs1558396320
NM_000143.4(FH):c.1358T>C (p.Leu453Pro) rs2147913041
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs) rs863223992
NM_000143.4(FH):c.1391-1G>A rs863223978
NM_000143.4(FH):c.1391-1G>C rs863223978
NM_000143.4(FH):c.1391-1_1391delinsTT rs2147911367
NM_000143.4(FH):c.1391-269A>G rs2147911550
NM_000143.4(FH):c.1391-2A>G rs863224008
NM_000143.4(FH):c.1391-2A>T rs863224008
NM_000143.4(FH):c.139C>T (p.Gln47Ter) rs863223980
NM_000143.4(FH):c.1400dup (p.Ala468fs) rs863223993
NM_000143.4(FH):c.1430_1437dup (p.Ser480fs) rs863223994
NM_000143.4(FH):c.1435G>T (p.Gly479Ter) rs1573876584
NM_000143.4(FH):c.1437_1443del (p.Gly479_Ser480insTer)
NM_000143.4(FH):c.1439C>G (p.Ser480Ter) rs1131691245
NM_000143.4(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.4(FH):c.1450G>T (p.Glu484Ter)
NM_000143.4(FH):c.1456_1458del (p.Ala486del) rs2147911262
NM_000143.4(FH):c.1457C>A (p.Ala486Asp) rs2147911265
NM_000143.4(FH):c.1457del (p.Ala486fs) rs2147911268
NM_000143.4(FH):c.1462del (p.Glu488fs)
NM_000143.4(FH):c.1469del (p.Gly490fs) rs1060499645
NM_000143.4(FH):c.1475_1476del (p.Leu492fs) rs886041201
NM_000143.4(FH):c.1478del (p.Thr493fs) rs2147911225
NM_000143.4(FH):c.1484_1488del (p.Glu495fs) rs1060500907
NM_000143.4(FH):c.1495G>T (p.Glu499Ter)
NM_000143.4(FH):c.1497del (p.Glu499fs) rs1659662318
NM_000143.4(FH):c.1499G>A (p.Trp500Ter) rs2147911203
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.152G>A (p.Arg51Gln) rs976734433
NM_000143.4(FH):c.174_177dup (p.Leu60Ter) rs1131691246
NM_000143.4(FH):c.175G>T (p.Glu59Ter) rs1573888513
NM_000143.4(FH):c.185_188dup (p.Asn64fs) rs1558402255
NM_000143.4(FH):c.201T>G (p.Tyr67Ter) rs1558402241
NM_000143.4(FH):c.204T>A (p.Tyr68Ter) rs1060500883
NM_000143.4(FH):c.221G>A (p.Arg74Lys) rs200922399
NM_000143.4(FH):c.237dup (p.Lys80Ter) rs1553341945
NM_000143.4(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.4(FH):c.244_245dup (p.Gly83fs)
NM_000143.4(FH):c.267+1G>A rs878853691
NM_000143.4(FH):c.267+1G>C rs878853691
NM_000143.4(FH):c.267+1G>T rs878853691
NM_000143.4(FH):c.267+1_267+10del rs1060499629
NM_000143.4(FH):c.268-2A>G rs1064793741
NM_000143.4(FH):c.288del (p.Phe96fs) rs2147923081
NM_000143.4(FH):c.29_30del (p.Arg10fs) rs2147927054
NM_000143.4(FH):c.301_319del (p.Arg101fs) rs1558401094
NM_000143.4(FH):c.302G>C (p.Arg101Pro) rs75086406
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer) rs876658569
NM_000143.4(FH):c.317_318dup (p.Asn107Ter)
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.321C>G (p.Asn107Lys)
NM_000143.4(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000143.4(FH):c.32_69del (p.Ser11fs) rs2147926966
NM_000143.4(FH):c.344del (p.Lys115fs) rs1573886415
NM_000143.4(FH):c.349G>C (p.Ala117Pro) rs886039363
NM_000143.4(FH):c.353del (p.Asn118fs) rs1558401064
NM_000143.4(FH):c.376G>T (p.Glu126Ter) rs1660143834
NM_000143.4(FH):c.379-1G>A rs1553341623
NM_000143.4(FH):c.379-1G>C rs1553341623
NM_000143.4(FH):c.37_92del (p.Pro13fs) rs2147926916
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer) rs863223995
NM_000143.4(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.4(FH):c.40del (p.Leu14fs)
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.4(FH):c.418del (p.Val140fs) rs1573885519
NM_000143.4(FH):c.421del (p.Trp141fs)
NM_000143.4(FH):c.424C>T (p.Gln142Ter) rs1355199594
NM_000143.4(FH):c.431G>T (p.Gly144Val) rs1057521425
NM_000143.4(FH):c.431del (p.Gly144fs) rs1660100641
NM_000143.4(FH):c.434C>G (p.Ser145Ter) rs1573885482
NM_000143.4(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.4(FH):c.439A>G (p.Thr147Ala) rs863223983
NM_000143.4(FH):c.442C>T (p.Gln148Ter) rs1558400571
NM_000143.4(FH):c.473G>T (p.Ser158Ile) rs1060500902
NM_000143.4(FH):c.478A>G (p.Arg160Gly) rs878853694
NM_000143.4(FH):c.484del (p.Ile162fs) rs1660098180
NM_000143.4(FH):c.490del (p.Met164fs)
NM_000143.4(FH):c.494T>G (p.Leu165Ter)
NM_000143.4(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.4(FH):c.532_555+7del rs2147921728
NM_000143.4(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.4(FH):c.556-3_562del rs1659999374
NM_000143.4(FH):c.557G>A (p.Ser186Asn) rs587782618
NM_000143.4(FH):c.557del (p.Ser186fs) rs1659999781
NM_000143.4(FH):c.560C>A (p.Ser187Ter) rs398123166
NM_000143.4(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.4(FH):c.564_587delinsG (p.Asn188fs) rs1573883310
NM_000143.4(FH):c.568_569del (p.Thr190fs) rs1553341367
NM_000143.4(FH):c.575C>T (p.Pro192Leu) rs1573883342
NM_000143.4(FH):c.578C>T (p.Thr193Ile) rs1573883332
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del) rs1060499635
NM_000143.4(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000143.4(FH):c.597del (p.Ala200fs)
NM_000143.4(FH):c.5dup (p.Tyr2Ter) rs1573890070
NM_000143.4(FH):c.634C>T (p.Gln212Ter) rs1553341353
NM_000143.4(FH):c.640_641insACAGAAG (p.Leu214fs)
NM_000143.4(FH):c.653T>C (p.Leu218Pro) rs1553341345
NM_000143.4(FH):c.65T>A (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.667A>T (p.Lys223Ter) rs2147919525
NM_000143.4(FH):c.668_669del (p.Lys223fs) rs886039364
NM_000143.4(FH):c.671_672del (p.Glu224fs) rs780001199
NM_000143.4(FH):c.674_675del (p.Phe225fs) rs1553341337
NM_000143.4(FH):c.679C>T (p.Gln227Ter) rs11545658
NM_000143.4(FH):c.688A>C (p.Lys230Gln) rs863223967
NM_000143.4(FH):c.688A>G (p.Lys230Glu) rs863223967
NM_000143.4(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.4(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000143.4(FH):c.6C>G (p.Tyr2Ter) rs199971078
NM_000143.4(FH):c.701C>T (p.Thr234Ile) rs878853695
NM_000143.4(FH):c.703C>T (p.His235Tyr) rs863223968
NM_000143.4(FH):c.704A>G (p.His235Arg) rs1659990191
NM_000143.4(FH):c.712G>A (p.Asp238Asn) rs1659989676
NM_000143.4(FH):c.722_738+3del rs1064792900
NM_000143.4(FH):c.723_724del (p.Leu242fs) rs2147919403
NM_000143.4(FH):c.727dup (p.Thr243fs)
NM_000143.4(FH):c.734_735del (p.Gly245fs) rs2147919385
NM_000143.4(FH):c.735_736delinsTT (p.Gln246Ter) rs2147919380
NM_000143.4(FH):c.737del (p.Gln246fs) rs727503928
NM_000143.4(FH):c.738+1G>A rs1659988368
NM_000143.4(FH):c.738+1G>C
NM_000143.4(FH):c.738+1G>T
NM_000143.4(FH):c.738+2T>C rs1060500901
NM_000143.4(FH):c.738+3A>G rs1659988181
NM_000143.4(FH):c.739-1G>A
NM_000143.4(FH):c.739-2A>C rs1553341174
NM_000143.4(FH):c.739-2A>G rs1553341174
NM_000143.4(FH):c.739G>T (p.Glu247Ter) rs1131691243
NM_000143.4(FH):c.760C>T (p.Gln254Ter) rs398123167
NM_000143.4(FH):c.771T>G (p.Tyr257Ter)
NM_000143.4(FH):c.780_781del (p.Arg261fs) rs1659924638
NM_000143.4(FH):c.782G>T (p.Arg261Ile) rs61736558
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.4(FH):c.797dup (p.Met266fs) rs863223981
NM_000143.4(FH):c.7C>T (p.Arg3Ter) rs202166344
NM_000143.4(FH):c.805del (p.Ile269fs) rs1131691234
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer) rs1553341163
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del) rs863223985
NM_000143.4(FH):c.822dup (p.Gly275fs) rs2147917619
NM_000143.4(FH):c.823G>A (p.Gly275Arg) rs1060499639
NM_000143.4(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.4(FH):c.823G>T (p.Gly275Ter) rs1060499639
NM_000143.4(FH):c.824_827dup (p.Thr277fs) rs1659922131
NM_000143.4(FH):c.827G>A (p.Gly276Asp) rs2147917609
NM_000143.4(FH):c.879del (p.Ala294fs) rs1131691622
NM_000143.4(FH):c.887_888del (p.Lys296fs) rs2147917520
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.905-1G>A rs797044973
NM_000143.4(FH):c.905-2A>C
NM_000143.4(FH):c.907_910del (p.Pro304fs)
NM_000143.4(FH):c.909_910del (p.Leu303fs) rs2147916393
NM_000143.4(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.4(FH):c.919del (p.Thr307fs) rs1553341049
NM_000143.4(FH):c.922G>A (p.Ala308Thr) rs121913118
NM_000143.4(FH):c.933del (p.Lys311fs) rs2147916327
NM_000143.4(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.4(FH):c.935T>C (p.Phe312Ser) rs1553341046
NM_000143.4(FH):c.936T>G (p.Phe312Leu) rs2147916319
NM_000143.4(FH):c.936del (p.Phe312fs) rs2147916324
NM_000143.4(FH):c.937G>T (p.Glu313Ter) rs863224001
NM_000143.4(FH):c.939del (p.Ala314fs)
NM_000143.4(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.4(FH):c.950C>T (p.Ala317Val) rs2147916281
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.4(FH):c.953A>T (p.His318Leu) rs755449276
NM_000143.4(FH):c.991dup (p.Thr331fs) rs1553341034
NM_000143.4(FH):c.999C>A (p.Cys333Ter) rs1553341031

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