ClinVar Miner

List of variants in gene FH reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP
NC_000001.11:g.(?_241497818)_(241519732_?)dup
NC_000001.11:g.(?_241497822)_(241519728_?)dup
NM_000143.3(FH):c.*92G>T rs202167168
NM_000143.3(FH):c.-48G>T rs886046320
NM_000143.3(FH):c.1013T>C (p.Ile338Thr) rs201975537
NM_000143.3(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000143.3(FH):c.1025T>C (p.Ile342Thr) rs201383596
NM_000143.3(FH):c.1035G>A (p.Leu345=)
NM_000143.3(FH):c.1036G>A (p.Gly346Ser) rs1553341024
NM_000143.3(FH):c.1045C>G (p.Pro349Ala) rs1254962869
NM_000143.3(FH):c.1046C>G (p.Pro349Arg) rs1553341017
NM_000143.3(FH):c.1048C>T (p.Arg350Trp) rs755436052
NM_000143.3(FH):c.1049G>A (p.Arg350Gln) rs749316923
NM_000143.3(FH):c.1061G>A (p.Gly354Glu) rs1057523184
NM_000143.3(FH):c.1109G>A (p.Gly370Asp) rs1553340894
NM_000143.3(FH):c.1117_1119delAAC (p.Asn373del) rs1553340884
NM_000143.3(FH):c.1118A>T (p.Asn373Ile)
NM_000143.3(FH):c.1129T>C (p.Cys377Arg) rs398123161
NM_000143.3(FH):c.1130G>A (p.Cys377Tyr) rs1553340880
NM_000143.3(FH):c.1138A>G (p.Met380Val) rs587778362
NM_000143.3(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1163T>C (p.Met388Thr) rs876660830
NM_000143.3(FH):c.1184C>T (p.Thr395Ile) rs878853690
NM_000143.3(FH):c.1195A>G (p.Ser399Gly)
NM_000143.3(FH):c.1198A>G (p.Asn400Asp) rs1131691247
NM_000143.3(FH):c.1199A>G (p.Asn400Ser) rs764430466
NM_000143.3(FH):c.1204C>T (p.His402Tyr)
NM_000143.3(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.3(FH):c.1216A>G (p.Asn406Asp) rs876659362
NM_000143.3(FH):c.1229C>T (p.Pro410Leu) rs1057517735
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.1237-16_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.1237-7C>T rs376260223
NM_000143.3(FH):c.1237-9_1237-8insTCTCTC rs1553340717
NM_000143.3(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.3(FH):c.1270G>A (p.Gly424Arg) rs1553340705
NM_000143.3(FH):c.1277C>A (p.Ala426Asp) rs1553340703
NM_000143.3(FH):c.127C>G (p.Arg43Gly) rs200496951
NM_000143.3(FH):c.1282G>C (p.Val428Leu)
NM_000143.3(FH):c.1286C>G (p.Ser429Cys)
NM_000143.3(FH):c.1292C>T (p.Thr431Ile) rs201005880
NM_000143.3(FH):c.12A>G (p.Ala4=) rs201277370
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.1303G>A (p.Val435Met) rs147528200
NM_000143.3(FH):c.1306G>T (p.Val436Leu) rs1324526971
NM_000143.3(FH):c.132+5G>A rs1060499627
NM_000143.3(FH):c.132+5G>T rs1060499627
NM_000143.3(FH):c.1322A>G (p.Asn441Ser) rs1357584529
NM_000143.3(FH):c.1325C>G (p.Thr442Arg) rs1060500899
NM_000143.3(FH):c.133-3T>C rs1553341989
NM_000143.3(FH):c.1330A>G (p.Arg444Gly)
NM_000143.3(FH):c.1354T>A (p.Ser452Thr)
NM_000143.3(FH):c.1366G>C (p.Val456Leu) rs200244096
NM_000143.3(FH):c.1379A>G (p.Asn460Ser) rs767253363
NM_000143.3(FH):c.1384C>T (p.His462Tyr) rs201625211
NM_000143.3(FH):c.1389A>G (p.Ile463Met) rs876659472
NM_000143.3(FH):c.1391G>A (p.Gly464Glu) rs1131691250
NM_000143.3(FH):c.1391G>T (p.Gly464Val) rs1131691250
NM_000143.3(FH):c.1398C>G (p.Asp466Glu)
NM_000143.3(FH):c.13C>T (p.Leu5Phe) rs1553342165
NM_000143.3(FH):c.1405G>A (p.Ala469Thr) rs1060500906
NM_000143.3(FH):c.1408A>G (p.Lys470Glu) rs922905323
NM_000143.3(FH):c.1421C>G (p.Thr474Arg) rs369802820
NM_000143.3(FH):c.1421C>T (p.Thr474Ile) rs369802820
NM_000143.3(FH):c.1424C>A (p.Ala475Glu) rs863224012
NM_000143.3(FH):c.1431_1433dupAAA (p.Lys477_Asn478insLys) rs367543046
NM_000143.3(FH):c.1433A>G (p.Asn478Ser) rs201886827
NM_000143.3(FH):c.1443C>G (p.Thr481=) rs780200136
NM_000143.3(FH):c.1447A>C (p.Lys483Gln) rs1017406473
NM_000143.3(FH):c.1462G>A (p.Glu488Lys) rs201115573
NM_000143.3(FH):c.1468G>C (p.Gly490Arg) rs1553340515
NM_000143.3(FH):c.1471T>C (p.Tyr491His) rs749713004
NM_000143.3(FH):c.1472A>G (p.Tyr491Cys) rs773801940
NM_000143.3(FH):c.1478C>A (p.Thr493Lys)
NM_000143.3(FH):c.1480G>C (p.Ala494Pro) rs1553340508
NM_000143.3(FH):c.1481C>G (p.Ala494Gly) rs752369363
NM_000143.3(FH):c.14T>C (p.Leu5Pro)
NM_000143.3(FH):c.1506dupA (p.Pro503Thrfs) rs886041202
NM_000143.3(FH):c.1508_1509insCAAACC (p.Lys504_Asp505insProLys) rs1060500895
NM_000143.3(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.3(FH):c.1526C>T (p.Pro509Leu) rs1553340499
NM_000143.3(FH):c.154A>T (p.Ile52Leu) rs543844061
NM_000143.3(FH):c.166A>G (p.Thr56Ala) rs1232573732
NM_000143.3(FH):c.172G>A (p.Gly58Ser)
NM_000143.3(FH):c.190A>G (p.Asn64Asp) rs886046319
NM_000143.3(FH):c.193G>A (p.Asp65Asn) rs769956664
NM_000143.3(FH):c.194A>G (p.Asp65Gly) rs145116688
NM_000143.3(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.3(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.3(FH):c.207C>T (p.Gly69=) rs370392829
NM_000143.3(FH):c.208G>A (p.Ala70Thr) rs587782207
NM_000143.3(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.3(FH):c.217G>A (p.Val73Met) rs201878591
NM_000143.3(FH):c.222A>T (p.Arg74Ser) rs146739519
NM_000143.3(FH):c.232A>C (p.Asn78His)
NM_000143.3(FH):c.245G>A (p.Gly82Glu)
NM_000143.3(FH):c.251T>C (p.Val84Ala) rs878853692
NM_000143.3(FH):c.259C>T (p.Arg87Cys) rs139642944
NM_000143.3(FH):c.267A>C (p.Pro89=) rs1060500897
NM_000143.3(FH):c.26C>G (p.Ala9Gly) rs766915154
NM_000143.3(FH):c.2T>G (p.Met1Arg) rs201261794
NM_000143.3(FH):c.302G>A (p.Arg101Gln) rs75086406
NM_000143.3(FH):c.305C>T (p.Ala102Val) rs61753295
NM_000143.3(FH):c.33G>C (p.Ser11=) rs200542051
NM_000143.3(FH):c.346A>T (p.Ile116Phe) rs201532589
NM_000143.3(FH):c.358A>G (p.Ile120Val) rs199641124
NM_000143.3(FH):c.35G>T (p.Arg12Leu)
NM_000143.3(FH):c.379G>T (p.Val127Leu) rs878853693
NM_000143.3(FH):c.37C>T (p.Pro13Ser) rs587778360
NM_000143.3(FH):c.382G>A (p.Ala128Thr) rs1553341620
NM_000143.3(FH):c.395T>C (p.Leu132Ser) rs1060499632
NM_000143.3(FH):c.403C>T (p.His135Tyr) rs1553341617
NM_000143.3(FH):c.404A>C (p.His135Pro) rs786202833
NM_000143.3(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.3(FH):c.40C>T (p.Leu14Phe) rs981562354
NM_000143.3(FH):c.40dupC (p.Leu14Profs) rs1060500900
NM_000143.3(FH):c.412C>G (p.Leu138Val) rs1466082062
NM_000143.3(FH):c.417G>A (p.Val139=)
NM_000143.3(FH):c.418G>C (p.Val140Leu) rs746195750
NM_000143.3(FH):c.41T>C (p.Leu14Pro) rs1553342163
NM_000143.3(FH):c.431G>T (p.Gly144Val) rs1057521425
NM_000143.3(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.3(FH):c.439A>G (p.Thr147Ala) rs863223983
NM_000143.3(FH):c.450T>A (p.Asn150Lys) rs1131691242
NM_000143.3(FH):c.46C>T (p.Arg16Trp)
NM_000143.3(FH):c.473G>A (p.Ser158Asn) rs1060500902
NM_000143.3(FH):c.478A>G (p.Arg160Gly) rs878853694
NM_000143.3(FH):c.497G>A (p.Gly166Glu)
NM_000143.3(FH):c.4T>C (p.Tyr2His) rs112335468
NM_000143.3(FH):c.500G>T (p.Gly167Val)
NM_000143.3(FH):c.50C>T (p.Ala17Val) rs111548093
NM_000143.3(FH):c.514A>G (p.Lys172Glu) rs201154463
NM_000143.3(FH):c.517A>T (p.Ile173Leu)
NM_000143.3(FH):c.520C>A (p.Pro174Thr) rs1553341598
NM_000143.3(FH):c.521C>A (p.Pro174His)
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.535G>A (p.Asp179Asn) rs1553341588
NM_000143.3(FH):c.545A>G (p.Asn182Ser)
NM_000143.3(FH):c.552C>G (p.Ser184Arg)
NM_000143.3(FH):c.554A>C (p.Gln185Pro)
NM_000143.3(FH):c.555+3delC rs1553341583
NM_000143.3(FH):c.555+4A>G
NM_000143.3(FH):c.556-4A>G rs370229813
NM_000143.3(FH):c.556-5A>G rs1060500892
NM_000143.3(FH):c.556A>T (p.Ser186Cys) rs1131691233
NM_000143.3(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.580G>A (p.Ala194Thr) rs587782215
NM_000143.3(FH):c.581C>A (p.Ala194Glu)
NM_000143.3(FH):c.583A>G (p.Met195Val) rs1553341364
NM_000143.3(FH):c.586C>T (p.His196Tyr) rs1553341363
NM_000143.3(FH):c.587A>G (p.His196Arg) rs763601207
NM_000143.3(FH):c.593C>G (p.Ala198Gly) rs1414507017
NM_000143.3(FH):c.597_599delTGC (p.Ala200del) rs786202907
NM_000143.3(FH):c.5A>G (p.Tyr2Cys) rs1553342167
NM_000143.3(FH):c.610C>A (p.His204Asn) rs863223996
NM_000143.3(FH):c.611A>G (p.His204Arg) rs1060500898
NM_000143.3(FH):c.611A>T (p.His204Leu)
NM_000143.3(FH):c.616G>A (p.Val206Ile) rs763183520
NM_000143.3(FH):c.620T>C (p.Leu207Pro) rs1060500894
NM_000143.3(FH):c.628G>A (p.Gly210Arg) rs949267641
NM_000143.3(FH):c.62C>G (p.Ala21Gly) rs1131691251
NM_000143.3(FH):c.647A>T (p.Asp216Val) rs1553341348
NM_000143.3(FH):c.648T>A (p.Asp216Glu) rs199536615
NM_000143.3(FH):c.653T>C (p.Leu218Pro) rs1553341345
NM_000143.3(FH):c.655G>A (p.Asp219Asn) rs11545656
NM_000143.3(FH):c.658_659delGCinsTT (p.Ala220Leu) rs1060500893
NM_000143.3(FH):c.664T>A (p.Ser222Thr)
NM_000143.3(FH):c.668A>C (p.Lys223Thr) rs1064795294
NM_000143.3(FH):c.670G>A (p.Glu224Lys) rs1060500905
NM_000143.3(FH):c.674T>C (p.Phe225Ser) rs149651434
NM_000143.3(FH):c.687C>G (p.Ile229Met)
NM_000143.3(FH):c.688A>G (p.Lys230Glu) rs863223967
NM_000143.3(FH):c.692T>C (p.Ile231Thr) rs1335587342
NM_000143.3(FH):c.695G>A (p.Gly232Glu) rs727503929
NM_000143.3(FH):c.6C>G (p.Tyr2Ter) rs199971078
NM_000143.3(FH):c.700A>C (p.Thr234Pro) rs372505976
NM_000143.3(FH):c.700A>G (p.Thr234Ala) rs372505976
NM_000143.3(FH):c.701C>T (p.Thr234Ile) rs878853695
NM_000143.3(FH):c.702T>G (p.Thr234=) rs201083387
NM_000143.3(FH):c.722C>T (p.Pro241Leu) rs1553341319
NM_000143.3(FH):c.731T>C (p.Leu244Pro) rs1060499636
NM_000143.3(FH):c.773C>T (p.Ala258Val) rs1553341166
NM_000143.3(FH):c.782G>T (p.Arg261Ile) rs61736558
NM_000143.3(FH):c.785T>G (p.Ile262Arg) rs786203177
NM_000143.3(FH):c.7C>G (p.Arg3Gly) rs202166344
NM_000143.3(FH):c.805A>G (p.Ile269Val) rs377015873
NM_000143.3(FH):c.809A>G (p.Tyr270Cys) rs202060616
NM_000143.3(FH):c.80G>C (p.Gly27Ala)
NM_000143.3(FH):c.814C>A (p.Leu272Ile) rs779019570
NM_000143.3(FH):c.817G>A (p.Ala273Thr) rs772190176
NM_000143.3(FH):c.823G>A (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.830C>G (p.Thr277Ser) rs1553341160
NM_000143.3(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.3(FH):c.883G>A (p.Ala295Thr) rs145843819
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.894_896delTGC (p.Ala299del) rs863223986
NM_000143.3(FH):c.905-5T>A rs886046318
NM_000143.3(FH):c.907T>G (p.Leu303Val) rs1057523697
NM_000143.3(FH):c.908T>C (p.Leu303Ser) rs201502246
NM_000143.3(FH):c.90C>T (p.Gly30=)
NM_000143.3(FH):c.911C>G (p.Pro304Arg) rs200491078
NM_000143.3(FH):c.917T>C (p.Val306Ala) rs147991516
NM_000143.3(FH):c.925C>T (p.Pro309Ser) rs368849989
NM_000143.3(FH):c.926C>T (p.Pro309Leu) rs756528378
NM_000143.3(FH):c.92C>T (p.Ala31Val) rs876659347
NM_000143.3(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.3(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.3(FH):c.94G>T (p.Ala32Ser) rs1371664717
NM_000143.3(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.3(FH):c.974G>C (p.Ser325Thr)
NM_000143.3(FH):c.977G>A (p.Gly326Glu) rs1553341037
NM_000143.3(FH):c.986A>G (p.Asn329Ser) rs768483509
NM_000143.3(FH):c.988A>C (p.Thr330Pro)
NM_000143.3(FH):c.989C>G (p.Thr330Ser) rs200028270
NM_000143.3(FH):c.98T>G (p.Val33Gly) rs1319755767
NM_000143.3(FH):c.994G>A (p.Ala332Thr) rs1157768121
NM_000143.3(FH):c.998G>A (p.Cys333Tyr) rs1553341032
NM_000143.3:c.947delC

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