ClinVar Miner

List of variants in gene FH studied for Hereditary leiomyomatosis and renal cell cancer

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 175
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_000143.4(FH):c.*221_*222del rs112946286 0.01684
NM_000143.4(FH):c.904+47G>A rs145209119 0.01502
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000143.4(FH):c.105G>A (p.Ser35=) rs181655698 0.00066
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NM_000143.3(FH):c.*266A>G rs113667027 0.00037
NM_000143.4(FH):c.7C>G (p.Arg3Gly) rs202166344 0.00022
NM_000143.4(FH):c.1303G>A (p.Val435Met) rs147528200 0.00021
NM_000143.4(FH):c.1237-12A>T rs74405673 0.00019
NM_000143.4(FH):c.*92G>T rs202167168 0.00016
NM_000143.4(FH):c.122C>T (p.Ala41Val) rs201486221 0.00014
NM_000143.4(FH):c.739-10T>C rs201971572 0.00013
NM_000143.4(FH):c.379-15A>T rs374529177 0.00012
NM_000143.4(FH):c.217G>A (p.Val73Met) rs201878591 0.00010
NM_000143.4(FH):c.33G>C (p.Ser11=) rs200542051 0.00010
NM_000143.4(FH):c.*102T>C rs200093224 0.00009
NM_000143.4(FH):c.*211G>C rs1385240800 0.00007
NM_000143.4(FH):c.12A>G (p.Ala4=) rs201277370 0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000143.4(FH):c.63C>T (p.Ala21=) rs555404867 0.00005
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.1482A>G (p.Ala494=) rs201559643 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000143.4(FH):c.917T>C (p.Val306Ala) rs147991516 0.00004
NM_000143.4(FH):c.305C>T (p.Ala102Val) rs61753295 0.00003
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.738+14A>G rs765629644 0.00003
NM_000143.4(FH):c.1428C>T (p.His476=) rs199887605 0.00002
NM_000143.4(FH):c.358A>G (p.Ile120Val) rs199641124 0.00002
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1109-7C>T rs1060504079 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.1308G>A (p.Val436=) rs201535626 0.00001
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys) rs863224010 0.00001
NM_000143.4(FH):c.1408A>G (p.Lys470Glu) rs922905323 0.00001
NM_000143.4(FH):c.1443C>G (p.Thr481=) rs780200136 0.00001
NM_000143.4(FH):c.1447A>C (p.Lys483Gln) rs1017406473 0.00001
NM_000143.4(FH):c.190A>G (p.Asn64Asp) rs886046319 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000143.4(FH):c.415G>A (p.Val139Met) rs200343823 0.00001
NM_000143.4(FH):c.41T>C (p.Leu14Pro) rs1553342163 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.655G>A (p.Asp219Asn) rs11545656 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000143.4(FH):c.805A>G (p.Ile269Val) rs377015873 0.00001
NM_000143.3(FH):c.-48G>T rs886046320
NM_000143.3(FH):c.-57C>G rs201589544
NM_000143.4(FH):c.-14G>C rs543556537
NM_000143.4(FH):c.1002T>G (p.Ser334Arg) rs2147916185
NM_000143.4(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.4(FH):c.1041del (p.Gly348fs) rs1060499641
NM_000143.4(FH):c.1056_1091dup (p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly)
NM_000143.4(FH):c.1056dup (p.Leu353fs) rs863224016
NM_000143.4(FH):c.1063G>T (p.Glu355Ter) rs1060499642
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.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.1118A>G (p.Asn373Ser) rs1060499643
NM_000143.4(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.4(FH):c.1127_1128del (p.Gln376fs)
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.1210G>T (p.Glu404Ter) rs797044974
NM_000143.4(FH):c.1236+2T>A
NM_000143.4(FH):c.1237-11C>G rs2147913449
NM_000143.4(FH):c.1237-14_1237-9dup rs779985493
NM_000143.4(FH):c.1237-50TC[17] rs144131869
NM_000143.4(FH):c.1237-50TC[18] rs144131869
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.1237-50TC[22] rs144131869
NM_000143.4(FH):c.1237-50TC[23] rs144131869
NM_000143.4(FH):c.1237-50TC[24] rs144131869
NM_000143.4(FH):c.1237-50TC[25] rs144131869
NM_000143.4(FH):c.1237-5_1237-4insCTCT rs886046316
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT rs1553340717
NM_000143.4(FH):c.1240A>T (p.Lys414Ter) rs1573878145
NM_000143.4(FH):c.1250_1251insTAATGTGT (p.Leu417fs)
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) rs201005880
NM_000143.4(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs) rs1553340686
NM_000143.4(FH):c.1298_1340dup (p.Met449fs) rs1553340681
NM_000143.4(FH):c.132+5G>T rs1060499627
NM_000143.4(FH):c.133-1G>A rs863224011
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1390+2T>C rs1558396285
NM_000143.4(FH):c.139C>T (p.Gln47Ter) rs863223980
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.1469del (p.Gly490fs) rs1060499645
NM_000143.4(FH):c.1475_1476del (p.Leu492fs) rs886041201
NM_000143.4(FH):c.1477dup (p.Thr493fs)
NM_000143.4(FH):c.1478del (p.Thr493fs) rs2147911225
NM_000143.4(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.4(FH):c.1506dup (p.Pro503fs) rs886041202
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.157G>T (p.Glu53Ter) rs863224013
NM_000143.4(FH):c.1A>C (p.Met1Leu) rs776806414
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.224del (p.Ser75fs) rs1660242061
NM_000143.4(FH):c.233dup (p.Asn78fs)
NM_000143.4(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.4(FH):c.267+1G>C 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.301_319del (p.Arg101fs) rs1558401094
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.349G>C (p.Ala117Pro) rs886039363
NM_000143.4(FH):c.395T>C (p.Leu132Ser) rs1060499632
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer) rs863223995
NM_000143.4(FH):c.395del (p.Lys131_Leu132insTer) rs1060499631
NM_000143.4(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.4(FH):c.415del (p.Val139fs)
NM_000143.4(FH):c.439dup (p.Thr147fs) rs1060499633
NM_000143.4(FH):c.490del (p.Met164fs)
NM_000143.4(FH):c.524del (p.Val175fs) rs1060499634
NM_000143.4(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.4(FH):c.556-2A>T rs750273092
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.574C>T (p.Pro192Ser) rs1573883345
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.587_593del (p.His196fs)
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.698G>T (p.Arg233Leu) rs121913123
NM_000143.4(FH):c.703C>G (p.His235Asp) rs863223968
NM_000143.4(FH):c.712G>C (p.Asp238His)
NM_000143.4(FH):c.722_738+3del rs1064792900
NM_000143.4(FH):c.731T>G (p.Leu244Arg) rs1060499636
NM_000143.4(FH):c.738+1G>A rs1659988368
NM_000143.4(FH):c.739-2A>G rs1553341174
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.4(FH):c.808del (p.Tyr270fs) rs1060499637
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.820G>C (p.Ala274Pro) rs1060499638
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.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.893_904+7del rs1573881533
NM_000143.4(FH):c.904+1G>A rs1553341148
NM_000143.4(FH):c.905-1G>A rs797044973
NM_000143.4(FH):c.905-5T>A rs886046318
NM_000143.4(FH):c.907_910del (p.Pro304fs)
NM_000143.4(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.4(FH):c.936T>G (p.Phe312Leu) rs2147916319
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.954_956dup (p.Asp319_Ala320insAsp)
NM_000143.4(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.4(FH):c.977G>A (p.Gly326Glu) rs1553341037
NM_000143.4(FH):c.994G>C (p.Ala332Pro)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.