ClinVar Miner

List of variants in gene FH studied for Multiple cutaneous leiomyomas

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Total variants: 98
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HGVS dbSNP
NM_000143.3(FH):c.*102T>C rs200093224
NM_000143.3(FH):c.*221_*222delTT rs112946286
NM_000143.3(FH):c.*266A>G rs113667027
NM_000143.3(FH):c.*92G>T rs202167168
NM_000143.3(FH):c.-11C>T rs200942733
NM_000143.3(FH):c.-48G>T rs886046320
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000143.3(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.3(FH):c.1041delT (p.Gly348Valfs) rs1060499641
NM_000143.3(FH):c.105G>A (p.Ser35=) rs181655698
NM_000143.3(FH):c.1063G>T (p.Glu355Ter) rs1060499642
NM_000143.3(FH):c.1067T>A (p.Leu356Ter) rs727503927
NM_000143.3(FH):c.1083_1086delTGAA (p.Glu362Glnfs) rs756469140
NM_000143.3(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.3(FH):c.1118A>G (p.Asn373Ser) rs1060499643
NM_000143.3(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.3(FH):c.1138dupA (p.Met380Asnfs) rs781466938
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.1209delT (p.Phe403Leufs) rs1060499644
NM_000143.3(FH):c.1210G>T (p.Glu404Ter) rs797044974
NM_000143.3(FH):c.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1236+14C>T rs149241949
NM_000143.3(FH):c.1237-12A>T rs74405673
NM_000143.3(FH):c.1237-14_1237-13delTC rs144131869
NM_000143.3(FH):c.1237-14_1237-13dupTC rs144131869
NM_000143.3(FH):c.1237-14_1237-9dupTCACTC rs779985493
NM_000143.3(FH):c.1237-16_1237-13delTCTC rs144131869
NM_000143.3(FH):c.1237-16_1237-13dupTCTC rs144131869
NM_000143.3(FH):c.1237-18_1237-13dupTCTCTC rs144131869
NM_000143.3(FH):c.1237-20_1237-13dupTCTCTCTC rs144131869
NM_000143.3(FH):c.1237-22_1237-13dupTCTCTCTCTC rs144131869
NM_000143.3(FH):c.1237-24_1237-13dupTCTCTCTCTCTC rs144131869
NM_000143.3(FH):c.1237-5_1237-4insTCTC rs886046316
NM_000143.3(FH):c.1237-9_1237-8insTCTCTC rs1553340717
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.1293delA (p.Glu432Lysfs) rs398123163
NM_000143.3(FH):c.1298_1340dup (p.Met449Argfs) rs1553340681
NM_000143.3(FH):c.12A>G (p.Ala4=) rs201277370
NM_000143.3(FH):c.1302C>T (p.Cys434=) rs2070080
NM_000143.3(FH):c.132+5G>T rs1060499627
NM_000143.3(FH):c.133-1G>A rs863224011
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.1421C>G (p.Thr474Arg) rs369802820
NM_000143.3(FH):c.1424C>A (p.Ala475Glu) rs863224012
NM_000143.3(FH):c.1443C>G (p.Thr481=) rs780200136
NM_000143.3(FH):c.1469delG (p.Gly490Alafs) rs1060499645
NM_000143.3(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.3(FH):c.1506dupA (p.Pro503Thrfs) rs886041202
NM_000143.3(FH):c.157G>T (p.Glu53Ter) rs863224013
NM_000143.3(FH):c.190A>G (p.Asn64Asp) rs886046319
NM_000143.3(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.3(FH):c.239dupA (p.Ile81Aspfs) rs1553341942
NM_000143.3(FH):c.267+1G>C rs878853691
NM_000143.3(FH):c.267+1_267+10delGTAAGTGGCA rs1060499629
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.305C>T (p.Ala102Val) rs61753295
NM_000143.3(FH):c.309C>T (p.Ala103=) rs10926501
NM_000143.3(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.3(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000143.3(FH):c.33G>C (p.Ser11=) rs200542051
NM_000143.3(FH):c.379-15A>T rs374529177
NM_000143.3(FH):c.395T>C (p.Leu132Ser) rs1060499632
NM_000143.3(FH):c.395_399delTAAAT (p.Leu132Terfs) rs863223995
NM_000143.3(FH):c.395delT (p.Leu132Terfs) rs1060499631
NM_000143.3(FH):c.439dupA (p.Thr147Asnfs) rs1060499633
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.524delT (p.Val175Glyfs) rs1060499634
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000143.3(FH):c.553_554insTG (p.Gln185Leufs) rs768182640
NM_000143.3(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.3(FH):c.556-2A>T rs750273092
NM_000143.3(FH):c.560C>G (p.Ser187Ter) rs398123166
NM_000143.3(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.578_583delCAGCAA (p.Thr193_Ala194del) rs1060499635
NM_000143.3(FH):c.63C>T (p.Ala21=) rs555404867
NM_000143.3(FH):c.671_672del (p.Glu224Valfs) rs780001199
NM_000143.3(FH):c.698G>A (p.Arg233His) rs121913123
NM_000143.3(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000143.3(FH):c.703C>G (p.His235Asp) rs863223968
NM_000143.3(FH):c.722_738+3del rs1064792900
NM_000143.3(FH):c.731T>G (p.Leu244Arg) rs1060499636
NM_000143.3(FH):c.739-10T>C rs201971572
NM_000143.3(FH):c.77C>T (p.Pro26Leu) rs187226800
NM_000143.3(FH):c.7C>G (p.Arg3Gly) rs202166344
NM_000143.3(FH):c.808delT (p.Tyr270Metfs) rs1060499637
NM_000143.3(FH):c.820G>C (p.Ala274Pro) rs1060499638
NM_000143.3(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.905-1G>A rs797044973
NM_000143.3(FH):c.905-5T>A rs886046318
NM_000143.3(FH):c.912_918delTTTTGTC (p.Phe305Leufs) rs794727836
NM_000143.3(FH):c.927G>A (p.Pro309=) rs61737760
NM_000143.3(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.3(FH):c.965T>G (p.Val322Gly) rs863224003

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