ClinVar Miner

List of variants in gene FH reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 240
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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.260G>A (p.Arg87His) rs200007371 0.00002
NM_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000143.4(FH):c.797T>C (p.Met266Thr) rs764648497 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.1204C>T (p.His402Tyr) rs760360724 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.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val) rs776806414 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000143.4(FH):c.222A>T (p.Arg74Ser) rs146739519 0.00001
NM_000143.4(FH):c.405T>G (p.His135Gln) rs1298815479 0.00001
NM_000143.4(FH):c.415G>A (p.Val139Met) rs200343823 0.00001
NM_000143.4(FH):c.431G>A (p.Gly144Glu) rs1057521425 0.00001
NM_000143.4(FH):c.514A>G (p.Lys172Glu) rs201154463 0.00001
NM_000143.4(FH):c.583A>G (p.Met195Val) rs1553341364 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 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_000001.11:g.(?_241508593)_(241513723_?)del
NM_000143.4(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.4(FH):c.1002T>G (p.Ser334Arg) rs2147916185
NM_000143.4(FH):c.1007T>G (p.Met336Arg) rs863223972
NM_000143.4(FH):c.1016C>A (p.Ala339Glu) rs1659852423
NM_000143.4(FH):c.1016C>T (p.Ala339Val) rs1659852423
NM_000143.4(FH):c.1021G>A (p.Asp341Asn) rs11545655
NM_000143.4(FH):c.1064A>T (p.Glu355Val)
NM_000143.4(FH):c.1067T>A (p.Leu356Ter) rs727503927
NM_000143.4(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.4(FH):c.1084G>A (p.Glu362Lys) rs121913119
NM_000143.4(FH):c.1084G>C (p.Glu362Gln) rs121913119
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.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu) rs863223987
NM_000143.4(FH):c.1108+1G>T rs1057517734
NM_000143.4(FH):c.1108+2T>A
NM_000143.4(FH):c.1109-1G>C rs1298313966
NM_000143.4(FH):c.1112A>G (p.Lys371Arg) rs863224005
NM_000143.4(FH):c.1117A>G (p.Asn373Asp)
NM_000143.4(FH):c.1120C>A (p.Pro374Thr) rs876660446
NM_000143.4(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.4(FH):c.1129T>C (p.Cys377Arg) rs398123161
NM_000143.4(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.4(FH):c.1145T>C (p.Met382Thr) rs2147914987
NM_000143.4(FH):c.1146G>A (p.Met382Ile) rs863224006
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla)
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.4(FH):c.1158A>C (p.Gln386His) rs2147914951
NM_000143.4(FH):c.1158_1160del (p.Gln386_Val387delinsHis) rs1659807516
NM_000143.4(FH):c.1165G>A (p.Gly389Arg)
NM_000143.4(FH):c.1169A>G (p.Asn390Ser) rs1178007598
NM_000143.4(FH):c.1178C>T (p.Ala393Val)
NM_000143.4(FH):c.1192G>A (p.Gly398Ser)
NM_000143.4(FH):c.1202G>A (p.Gly401Glu) rs1573879289
NM_000143.4(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.4(FH):c.1205A>T (p.His402Leu) rs886039366
NM_000143.4(FH):c.1209del (p.Phe403fs) rs1060499644
NM_000143.4(FH):c.1236+2T>A
NM_000143.4(FH):c.1236+2T>C
NM_000143.4(FH):c.1237-11C>G rs2147913449
NM_000143.4(FH):c.1237-1G>C
NM_000143.4(FH):c.1237-1G>T rs1573878149
NM_000143.4(FH):c.1250T>G (p.Leu417Ter) rs1553340709
NM_000143.4(FH):c.1250_1251insTAATGTGT (p.Leu417fs)
NM_000143.4(FH):c.1255T>G (p.Ser419Ala)
NM_000143.4(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.4(FH):c.1268T>G (p.Leu423Arg) rs863224009
NM_000143.4(FH):c.1273G>A (p.Asp425Asn)
NM_000143.4(FH):c.1274A>T (p.Asp425Val) rs1038324354
NM_000143.4(FH):c.1275T>A (p.Asp425Glu)
NM_000143.4(FH):c.127C>T (p.Arg43Ter) rs200496951
NM_000143.4(FH):c.1283_1294del (p.Val428_Thr431del)
NM_000143.4(FH):c.1302C>A (p.Cys434Ter) rs2070080
NM_000143.4(FH):c.132+5G>A rs1060499627
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1390+2T>C rs1558396285
NM_000143.4(FH):c.1391-1G>T
NM_000143.4(FH):c.1391-269A>G rs2147911550
NM_000143.4(FH):c.1391-2del rs1064795320
NM_000143.4(FH):c.1391G>T (p.Gly464Val) rs1131691250
NM_000143.4(FH):c.1424C>A (p.Ala475Glu) rs863224012
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.4(FH):c.1446A>C (p.Leu482Phe) rs863223979
NM_000143.4(FH):c.1469del (p.Gly490fs) rs1060499645
NM_000143.4(FH):c.1478del (p.Thr493fs) rs2147911225
NM_000143.4(FH):c.1483G>T (p.Glu495Ter)
NM_000143.4(FH):c.1486C>T (p.Gln496Ter) rs1553340506
NM_000143.4(FH):c.1519_1521del (p.Leu507del)
NM_000143.4(FH):c.1520T>A (p.Leu507Gln)
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.152G>C (p.Arg51Pro) rs976734433
NM_000143.4(FH):c.157G>A (p.Glu53Lys) rs863224013
NM_000143.4(FH):c.199T>G (p.Tyr67Asp) rs1660243497
NM_000143.4(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.4(FH):c.1A>T (p.Met1Leu) rs776806414
NM_000143.4(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.4(FH):c.224del (p.Ser75fs) rs1660242061
NM_000143.4(FH):c.263T>A (p.Met88Lys) rs763390436
NM_000143.4(FH):c.266_267+1delinsATT
NM_000143.4(FH):c.268-2A>G rs1064793741
NM_000143.4(FH):c.268-3_268-2del rs2147923117
NM_000143.4(FH):c.275TTA[1] (p.Ile93del) rs1573886490
NM_000143.4(FH):c.284C>A (p.Ala95Asp)
NM_000143.4(FH):c.29_32delinsTT (p.Arg10fs)
NM_000143.4(FH):c.2T>A (p.Met1Lys) rs201261794
NM_000143.4(FH):c.2T>C (p.Met1Thr) rs201261794
NM_000143.4(FH):c.302G>C (p.Arg101Pro) rs75086406
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000143.4(FH):c.32C>A (p.Ser11Ter)
NM_000143.4(FH):c.337del (p.Asp113fs)
NM_000143.4(FH):c.349G>C (p.Ala117Pro) rs886039363
NM_000143.4(FH):c.378+1G>A rs1660143675
NM_000143.4(FH):c.378+2T>C rs1131691241
NM_000143.4(FH):c.378G>C (p.Glu126Asp) rs1573886367
NM_000143.4(FH):c.379-1G>C rs1553341623
NM_000143.4(FH):c.3G>A (p.Met1Ile) rs564147469
NM_000143.4(FH):c.3G>C (p.Met1Ile) rs564147469
NM_000143.4(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.4(FH):c.40_41insG (p.Leu14fs)
NM_000143.4(FH):c.425A>G (p.Gln142Arg) rs1573885503
NM_000143.4(FH):c.431G>T (p.Gly144Val) rs1057521425
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.448A>G (p.Asn150Asp) rs1660099527
NM_000143.4(FH):c.450T>A (p.Asn150Lys) rs1131691242
NM_000143.4(FH):c.452T>A (p.Met151Lys) rs1660099266
NM_000143.4(FH):c.462T>G (p.Asn154Lys) rs2147921891
NM_000143.4(FH):c.470T>G (p.Ile157Ser) rs2147921876
NM_000143.4(FH):c.478A>G (p.Arg160Gly) rs878853694
NM_000143.4(FH):c.479G>C (p.Arg160Thr)
NM_000143.4(FH):c.480A>T (p.Arg160Ser)
NM_000143.4(FH):c.482C>A (p.Ala161Glu)
NM_000143.4(FH):c.490del (p.Met164fs)
NM_000143.4(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.4(FH):c.521C>A (p.Pro174His) rs199822819
NM_000143.4(FH):c.524T>G (p.Val175Gly)
NM_000143.4(FH):c.527A>G (p.His176Arg) rs1158759883
NM_000143.4(FH):c.530C>G (p.Pro177Arg) rs2147921795
NM_000143.4(FH):c.539A>G (p.His180Arg) rs863224015
NM_000143.4(FH):c.539A>T (p.His180Leu) rs863224015
NM_000143.4(FH):c.554A>C (p.Gln185Pro) rs779707997
NM_000143.4(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.4(FH):c.555+1G>A rs1375252870
NM_000143.4(FH):c.555+5G>A
NM_000143.4(FH):c.555+5G>C rs1553341582
NM_000143.4(FH):c.556-2A>C
NM_000143.4(FH):c.556-2A>G rs750273092
NM_000143.4(FH):c.556-2A>T rs750273092
NM_000143.4(FH):c.556-9_556-2del
NM_000143.4(FH):c.557G>A (p.Ser186Asn) rs587782618
NM_000143.4(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.4(FH):c.562A>G (p.Asn188Asp)
NM_000143.4(FH):c.563A>T (p.Asn188Ile) rs2147919711
NM_000143.4(FH):c.566A>T (p.Asp189Val) rs1064793125
NM_000143.4(FH):c.574C>G (p.Pro192Ala) rs1573883345
NM_000143.4(FH):c.574C>T (p.Pro192Ser) rs1573883345
NM_000143.4(FH):c.575C>T (p.Pro192Leu) rs1573883342
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.589A>T (p.Ile197Phe) rs201764931
NM_000143.4(FH):c.591TGC[2] (p.Ala200del) rs786202907
NM_000143.4(FH):c.653T>G (p.Leu218Arg) rs1553341345
NM_000143.4(FH):c.65T>A (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.664T>C (p.Ser222Pro) rs1448268784
NM_000143.4(FH):c.668_669del (p.Lys223fs) rs886039364
NM_000143.4(FH):c.690G>C (p.Lys230Asn) rs2147919465
NM_000143.4(FH):c.697C>G (p.Arg233Gly) rs587781682
NM_000143.4(FH):c.698G>C (p.Arg233Pro) rs121913123
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.700A>C (p.Thr234Pro) rs372505976
NM_000143.4(FH):c.700A>T (p.Thr234Ser)
NM_000143.4(FH):c.701C>A (p.Thr234Asn)
NM_000143.4(FH):c.703C>A (p.His235Asn)
NM_000143.4(FH):c.703C>G (p.His235Asp) rs863223968
NM_000143.4(FH):c.703C>T (p.His235Tyr) rs863223968
NM_000143.4(FH):c.705T>G (p.His235Gln) rs919993170
NM_000143.4(FH):c.706A>G (p.Thr236Ala) rs1064793126
NM_000143.4(FH):c.712G>C (p.Asp238His)
NM_000143.4(FH):c.731T>G (p.Leu244Arg) rs1060499636
NM_000143.4(FH):c.738+1G>A rs1659988368
NM_000143.4(FH):c.738+2T>C rs1060500901
NM_000143.4(FH):c.738G>C (p.Gln246His) rs2147919372
NM_000143.4(FH):c.739-2A>G rs1553341174
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.4(FH):c.7C>T (p.Arg3Ter) rs202166344
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.81delinsAT (p.Leu28fs) rs1553342155
NM_000143.4(FH):c.820G>C (p.Ala274Pro) rs1060499638
NM_000143.4(FH):c.827G>A (p.Gly276Asp) rs2147917609
NM_000143.4(FH):c.827G>T (p.Gly276Val)
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.839del (p.Gly280fs)
NM_000143.4(FH):c.842C>G (p.Thr281Arg)
NM_000143.4(FH):c.844G>C (p.Gly282Arg) rs1573881629
NM_000143.4(FH):c.845G>T (p.Gly282Val) rs935002190
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.893C>T (p.Ala298Val)
NM_000143.4(FH):c.893_904+7del rs1573881533
NM_000143.4(FH):c.904+1G>A rs1553341148
NM_000143.4(FH):c.904+1G>T rs1553341148
NM_000143.4(FH):c.905-1G>A rs797044973
NM_000143.4(FH):c.905-1G>C rs797044973
NM_000143.4(FH):c.915T>G (p.Phe305Leu) rs2147916371
NM_000143.4(FH):c.923C>T (p.Ala308Val)
NM_000143.4(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.4(FH):c.934T>G (p.Phe312Val) rs863224000
NM_000143.4(FH):c.935T>C (p.Phe312Ser) rs1553341046
NM_000143.4(FH):c.935T>G (p.Phe312Cys) rs1553341046
NM_000143.4(FH):c.936T>G (p.Phe312Leu) rs2147916319
NM_000143.4(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.4(FH):c.944T>C (p.Leu315Pro) rs1573880531
NM_000143.4(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.4(FH):c.947C>T (p.Ala316Val)
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.954_956dup (p.Asp319_Ala320insAsp)
NM_000143.4(FH):c.955G>T (p.Asp319Tyr)
NM_000143.4(FH):c.956A>T (p.Asp319Val)
NM_000143.4(FH):c.965T>A (p.Val322Asp)
NM_000143.4(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.4(FH):c.967G>A (p.Glu323Lys) rs2147916256
NM_000143.4(FH):c.977G>A (p.Gly326Glu) rs1553341037
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200
NM_000143.4(FH):c.994G>C (p.Ala332Pro)
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) rs1553341032

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