ClinVar Miner

List of variants in gene FH reported as pathogenic for Hereditary cancer-predisposing syndrome

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Gene type:
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Total variants: 130
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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.698G>A (p.Arg233His) rs121913123 0.00003
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 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.301C>T (p.Arg101Ter) rs121913120 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.697C>T (p.Arg233Cys) rs587781682 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000143.3(FH):c.556_557delAG rs1131691235
NM_000143.4(FH):c.1000dup (p.Ser334fs) rs1659853029
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.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.1056dup (p.Leu353fs) rs863224016
NM_000143.4(FH):c.1068del (p.Ile357fs)
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.1097G>A (p.Ser366Asn) rs863224004
NM_000143.4(FH):c.1108+1G>T rs1057517734
NM_000143.4(FH):c.1108G>C (p.Gly370Arg) rs1659848371
NM_000143.4(FH):c.1126C>T (p.Gln376Ter) rs398123160
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.1209del (p.Phe403fs) rs1060499644
NM_000143.4(FH):c.1236+1G>C rs1131691249
NM_000143.4(FH):c.1236+2T>G
NM_000143.4(FH):c.1237-2A>G rs2147913407
NM_000143.4(FH):c.1240A>T (p.Lys414Ter) rs1573878145
NM_000143.4(FH):c.1247del (p.Val416fs) rs2147913368
NM_000143.4(FH):c.1287del (p.Phe430fs) rs1659746788
NM_000143.4(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.4(FH):c.1298dup (p.Asn433fs) rs1573878071
NM_000143.4(FH):c.129_132+5delinsGAGC
NM_000143.4(FH):c.132G>A (p.Met44Ile) rs863223982
NM_000143.4(FH):c.1339A>T (p.Lys447Ter) rs863223977
NM_000143.4(FH):c.1347del (p.Met449fs) rs1060500903
NM_000143.4(FH):c.1349_1352dup (p.Glu451_Ser452insTer) rs863223990
NM_000143.4(FH):c.134del (p.Ala45fs) rs1131691237
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs) rs863223992
NM_000143.4(FH):c.1391-1G>T
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.1413dup (p.Ala472fs)
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
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.1469del (p.Gly490fs) rs1060499645
NM_000143.4(FH):c.1475_1476del (p.Leu492fs) rs886041201
NM_000143.4(FH):c.1482del (p.Glu495fs)
NM_000143.4(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.4(FH):c.1506dup (p.Pro503fs) rs886041202
NM_000143.4(FH):c.157G>T (p.Glu53Ter) rs863224013
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.201T>A (p.Tyr67Ter) rs1558402241
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.204T>G (p.Tyr68Ter)
NM_000143.4(FH):c.211C>T (p.Gln71Ter)
NM_000143.4(FH):c.220A>T (p.Arg74Ter)
NM_000143.4(FH):c.237dup (p.Lys80Ter) rs1553341945
NM_000143.4(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.4(FH):c.243del (p.Ile81fs) rs1573888356
NM_000143.4(FH):c.267+1G>A rs878853691
NM_000143.4(FH):c.267+1G>C rs878853691
NM_000143.4(FH):c.273dup (p.Val92fs)
NM_000143.4(FH):c.295_301del (p.Leu99fs) rs863224017
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.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.349G>C (p.Ala117Pro) rs886039363
NM_000143.4(FH):c.353del (p.Asn118fs) rs1558401064
NM_000143.4(FH):c.378+1G>A rs1660143675
NM_000143.4(FH):c.379-1G>A rs1553341623
NM_000143.4(FH):c.379-2A>G rs1131691240
NM_000143.4(FH):c.382dup (p.Ala128fs)
NM_000143.4(FH):c.385G>T (p.Glu129Ter)
NM_000143.4(FH):c.423del (p.Trp141fs)
NM_000143.4(FH):c.425A>G (p.Gln142Arg) rs1573885503
NM_000143.4(FH):c.431G>C (p.Gly144Ala)
NM_000143.4(FH):c.434C>G (p.Ser145Ter) rs1573885482
NM_000143.4(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.4(FH):c.539A>G (p.His180Arg) rs863224015
NM_000143.4(FH):c.551del (p.Ser184fs)
NM_000143.4(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.4(FH):c.555+1_555+9del
NM_000143.4(FH):c.563del (p.Asn188fs) rs1131691248
NM_000143.4(FH):c.566dup (p.Asp189fs)
NM_000143.4(FH):c.568_569del (p.Thr190fs) rs1553341367
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del) rs1060499635
NM_000143.4(FH):c.624del (p.Leu208fs) rs2147919608
NM_000143.4(FH):c.663dup (p.Ser222fs) rs1573883195
NM_000143.4(FH):c.683TCA[1] (p.Ile229del)
NM_000143.4(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.4(FH):c.697C>G (p.Arg233Gly) rs587781682
NM_000143.4(FH):c.698G>T (p.Arg233Leu) rs121913123
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.722_738+3del rs1064792900
NM_000143.4(FH):c.738G>A (p.Gln246=)
NM_000143.4(FH):c.739G>T (p.Glu247Ter) rs1131691243
NM_000143.4(FH):c.757C>T (p.Gln253Ter) rs1131691239
NM_000143.4(FH):c.763_767del (p.Val255fs)
NM_000143.4(FH):c.780_781del (p.Arg261fs) rs1659924638
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.4(FH):c.805del (p.Ile269fs) rs1131691234
NM_000143.4(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.4(FH):c.824_827dup (p.Thr277fs) rs1659922131
NM_000143.4(FH):c.842C>T (p.Thr281Ile) rs1573881633
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.904+1G>A rs1553341148
NM_000143.4(FH):c.905-1G>A rs797044973
NM_000143.4(FH):c.907_910del (p.Pro304fs)
NM_000143.4(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.4(FH):c.935T>C (p.Phe312Ser) rs1553341046
NM_000143.4(FH):c.937G>T (p.Glu313Ter) rs863224001
NM_000143.4(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.4(FH):c.999C>A (p.Cys333Ter) rs1553341031

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