ClinVar Miner

List of variants in gene FH reported as uncertain significance for Fumarase deficiency

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Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP
NC_000001.10:g.(?_241661118)_(241683032_?)dup
NC_000001.10:g.(?_241661122)_(241683028_?)dup
NM_000143.3(FH):c.*92G>T rs202167168
NM_000143.3(FH):c.-48G>T rs886046320
NM_000143.3(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000143.3(FH):c.1035G>A (p.Leu345=) rs1558397757
NM_000143.3(FH):c.1036G>A (p.Gly346Ser) rs1553341024
NM_000143.3(FH):c.103T>C (p.Ser35Pro)
NM_000143.3(FH):c.1040C>T (p.Ser347Phe)
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.1051T>G (p.Ser351Ala)
NM_000143.3(FH):c.1088C>G (p.Pro363Arg)
NM_000143.3(FH):c.10G>A (p.Ala4Thr)
NM_000143.3(FH):c.1109G>A (p.Gly370Asp) rs1553340894
NM_000143.3(FH):c.1117_1119del (p.Asn373del) rs1553340884
NM_000143.3(FH):c.1118A>G (p.Asn373Ser) rs1060499643
NM_000143.3(FH):c.1118A>T (p.Asn373Ile)
NM_000143.3(FH):c.1123A>G (p.Thr375Ala)
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.1151C>T (p.Ala384Val)
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) rs1372936109
NM_000143.3(FH):c.1204C>T (p.His402Tyr)
NM_000143.3(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.3(FH):c.1231A>G (p.Met411Val)
NM_000143.3(FH):c.1236G>A (p.Met412Ile)
NM_000143.3(FH):c.1237-12A>T rs74405673
NM_000143.3(FH):c.1237-14_1237-13delTC rs144131869
NM_000143.3(FH):c.1237-16_1237-13delTCTC 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.1237-50TC[20] rs144131869
NM_000143.3(FH):c.1237-50TC[21] rs144131869
NM_000143.3(FH):c.1237-5C>G
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.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) rs1558396381
NM_000143.3(FH):c.1286C>G (p.Ser429Cys) rs1558396375
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.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.1322A>G (p.Asn441Ser) rs1357584529
NM_000143.3(FH):c.1325C>G (p.Thr442Arg) rs1060500899
NM_000143.3(FH):c.132G>A (p.Met44Ile) rs863223982
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.1362G>A (p.Met454Ile)
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.1391-1G>C rs863223978
NM_000143.3(FH):c.1391G>T (p.Gly464Val) rs1131691250
NM_000143.3(FH):c.1398C>G (p.Asp466Glu) rs1558395525
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.1415C>T (p.Ala472Val)
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.1433A>G (p.Asn478Ser) rs201886827
NM_000143.3(FH):c.1434T>A (p.Asn478Lys)
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.1478C>A (p.Thr493Lys) rs1558395446
NM_000143.3(FH):c.1481C>G (p.Ala494Gly) rs752369363
NM_000143.3(FH):c.14T>C (p.Leu5Pro)
NM_000143.3(FH):c.1508_1509insCAAACC (p.Pro503_Lys504dup) rs1060500895
NM_000143.3(FH):c.151C>T (p.Arg51Trp)
NM_000143.3(FH):c.152G>C (p.Arg51Pro)
NM_000143.3(FH):c.166A>G (p.Thr56Ala) rs1232573732
NM_000143.3(FH):c.172G>A (p.Gly58Ser)
NM_000143.3(FH):c.187C>T (p.Pro63Ser)
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.209C>T (p.Ala70Val)
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.227C>T (p.Thr76Met)
NM_000143.3(FH):c.230T>C (p.Met77Thr)
NM_000143.3(FH):c.232A>C (p.Asn78His) rs1558402209
NM_000143.3(FH):c.245G>A (p.Gly82Glu) rs1558402197
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.269C>T (p.Thr90Ile)
NM_000143.3(FH):c.26C>G (p.Ala9Gly) rs766915154
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.327T>G (p.Asp109Glu)
NM_000143.3(FH):c.339T>A (p.Asp113Glu)
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.352A>G (p.Asn118Asp)
NM_000143.3(FH):c.356C>T (p.Ala119Val)
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>A (p.Pro13Thr)
NM_000143.3(FH):c.382G>A (p.Ala128Thr) rs1553341620
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.412C>G (p.Leu138Val) rs1466082062
NM_000143.3(FH):c.415G>A (p.Val139Met)
NM_000143.3(FH):c.416T>G (p.Val139Gly)
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.439A>G (p.Thr147Ala) rs863223983
NM_000143.3(FH):c.451A>T (p.Met151Leu)
NM_000143.3(FH):c.46C>T (p.Arg16Trp) rs1324875131
NM_000143.3(FH):c.473G>A (p.Ser158Asn) rs1060500902
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) rs1558400520
NM_000143.3(FH):c.502G>C (p.Glu168Gln)
NM_000143.3(FH):c.509G>A (p.Gly170Asp)
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) rs1558400504
NM_000143.3(FH):c.521C>A (p.Pro174His)
NM_000143.3(FH):c.535G>A (p.Asp179Asn) rs1553341588
NM_000143.3(FH):c.545A>G (p.Asn182Ser) rs1558400468
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.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.578C>T (p.Thr193Ile)
NM_000143.3(FH):c.580G>A (p.Ala194Thr) rs587782215
NM_000143.3(FH):c.581C>A (p.Ala194Glu) rs1558399442
NM_000143.3(FH):c.583A>G (p.Met195Val) rs1553341364
NM_000143.3(FH):c.591_593TGC[2] (p.Ala200del) rs786202907
NM_000143.3(FH):c.5A>G (p.Tyr2Cys) rs1553342167
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.616G>T (p.Val206Leu)
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.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.657T>G (p.Asp219Glu)
NM_000143.3(FH):c.658_659delinsTT (p.Ala220Leu) rs1060500893
NM_000143.3(FH):c.664T>A (p.Ser222Thr) rs1448268784
NM_000143.3(FH):c.668A>T (p.Lys223Ile)
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.677C>A (p.Ala226Glu)
NM_000143.3(FH):c.683T>C (p.Ile228Thr)
NM_000143.3(FH):c.685A>G (p.Ile229Val)
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.700A>C (p.Thr234Pro) rs372505976
NM_000143.3(FH):c.701C>T (p.Thr234Ile) rs878853695
NM_000143.3(FH):c.705T>G (p.His235Gln)
NM_000143.3(FH):c.731T>C (p.Leu244Pro) rs1060499636
NM_000143.3(FH):c.74C>T (p.Ala25Val)
NM_000143.3(FH):c.759A>G (p.Gln253=)
NM_000143.3(FH):c.776T>A (p.Met259Lys)
NM_000143.3(FH):c.7C>G (p.Arg3Gly) rs202166344
NM_000143.3(FH):c.809A>G (p.Tyr270Cys) rs202060616
NM_000143.3(FH):c.80G>C (p.Gly27Ala) rs1339215584
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.853A>G (p.Thr285Ala)
NM_000143.3(FH):c.877G>A (p.Val293Ile)
NM_000143.3(FH):c.883G>A (p.Ala295Thr) rs145843819
NM_000143.3(FH):c.893C>G (p.Ala298Gly)
NM_000143.3(FH):c.905-3T>C
NM_000143.3(FH):c.905-5T>A rs886046318
NM_000143.3(FH):c.908T>C (p.Leu303Ser) rs201502246
NM_000143.3(FH):c.90C>T (p.Gly30=) rs1262096783
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.937G>A (p.Glu313Lys) rs863224001
NM_000143.3(FH):c.944T>C (p.Leu315Pro)
NM_000143.3(FH):c.94G>T (p.Ala32Ser) rs1371664717
NM_000143.3(FH):c.974G>C (p.Ser325Thr) rs1423324601
NM_000143.3(FH):c.976G>A (p.Gly326Arg)
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.994G>A (p.Ala332Thr) rs1157768121
NM_000143.3(FH):c.998G>A (p.Cys333Tyr) rs1553341032

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