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: 219
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000143.3(FH):c.*266A>G rs113667027 0.00037
NM_000143.4(FH):c.4T>C (p.Tyr2His) rs112335468 0.00023
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.883G>A (p.Ala295Thr) rs145843819 0.00018
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.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.120C>G (p.Asn40Lys) rs876658186 0.00006
NM_000143.4(FH):c.12A>G (p.Ala4=) rs201277370 0.00006
NM_000143.4(FH):c.259C>T (p.Arg87Cys) rs139642944 0.00006
NM_000143.4(FH):c.35G>T (p.Arg12Leu) rs367826177 0.00006
NM_000143.4(FH):c.63C>T (p.Ala21=) rs555404867 0.00005
NM_000143.4(FH):c.809A>G (p.Tyr270Cys) rs202060616 0.00005
NM_000143.4(FH):c.994G>A (p.Ala332Thr) rs1157768121 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.302G>A (p.Arg101Gln) rs75086406 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000143.4(FH):c.556-4A>G rs370229813 0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr) rs587782215 0.00004
NM_000143.4(FH):c.917T>C (p.Val306Ala) rs147991516 0.00004
NM_000143.4(FH):c.1462G>A (p.Glu488Lys) rs201115573 0.00003
NM_000143.4(FH):c.305C>T (p.Ala102Val) rs61753295 0.00003
NM_000143.4(FH):c.37C>A (p.Pro13Thr) rs587778360 0.00003
NM_000143.4(FH):c.40C>T (p.Leu14Phe) rs981562354 0.00003
NM_000143.4(FH):c.616G>A (p.Val206Ile) rs763183520 0.00003
NM_000143.4(FH):c.738+14A>G rs765629644 0.00003
NM_000143.4(FH):c.1049G>A (p.Arg350Gln) rs749316923 0.00002
NM_000143.4(FH):c.1138A>G (p.Met380Val) rs587778362 0.00002
NM_000143.4(FH):c.116C>T (p.Pro39Leu) rs1415259326 0.00002
NM_000143.4(FH):c.260G>A (p.Arg87His) rs200007371 0.00002
NM_000143.4(FH):c.352A>G (p.Asn118Asp) rs200738857 0.00002
NM_000143.4(FH):c.358A>G (p.Ile120Val) rs199641124 0.00002
NM_000143.4(FH):c.451A>T (p.Met151Leu) rs749752047 0.00002
NM_000143.4(FH):c.65T>G (p.Leu22Ter) rs1031919395 0.00002
NM_000143.4(FH):c.664T>A (p.Ser222Thr) rs1448268784 0.00002
NM_000143.4(FH):c.797T>C (p.Met266Thr) rs764648497 0.00002
NM_000143.4(FH):c.925C>T (p.Pro309Ser) rs368849989 0.00002
NM_000143.4(FH):c.926C>T (p.Pro309Leu) rs756528378 0.00002
NM_000143.4(FH):c.1028G>A (p.Arg343Gln) rs756990249 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.104C>G (p.Ser35Trp) rs942065027 0.00001
NM_000143.4(FH):c.1109-7C>T rs1060504079 0.00001
NM_000143.4(FH):c.1195A>G (p.Ser399Gly) rs1372936109 0.00001
NM_000143.4(FH):c.1199A>G (p.Asn400Ser) rs764430466 0.00001
NM_000143.4(FH):c.1204C>T (p.His402Tyr) rs760360724 0.00001
NM_000143.4(FH):c.1259C>T (p.Ala420Val) rs766377516 0.00001
NM_000143.4(FH):c.127C>G (p.Arg43Gly) rs200496951 0.00001
NM_000143.4(FH):c.1390+6T>A rs1338650106 0.00001
NM_000143.4(FH):c.1405G>A (p.Ala469Thr) rs1060500906 0.00001
NM_000143.4(FH):c.1408A>G (p.Lys470Glu) rs922905323 0.00001
NM_000143.4(FH):c.1433A>G (p.Asn478Ser) rs201886827 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.1471T>C (p.Tyr491His) rs749713004 0.00001
NM_000143.4(FH):c.1501G>A (p.Val501Ile) rs201893992 0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.154A>T (p.Ile52Leu) rs543844061 0.00001
NM_000143.4(FH):c.190A>G (p.Asn64Asp) rs886046319 0.00001
NM_000143.4(FH):c.193G>A (p.Asp65Asn) rs769956664 0.00001
NM_000143.4(FH):c.203A>G (p.Tyr68Cys) rs1472397242 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000143.4(FH):c.222A>T (p.Arg74Ser) rs146739519 0.00001
NM_000143.4(FH):c.227C>T (p.Thr76Met) rs778578307 0.00001
NM_000143.4(FH):c.26C>G (p.Ala9Gly) rs766915154 0.00001
NM_000143.4(FH):c.28C>T (p.Arg10Cys) rs201507555 0.00001
NM_000143.4(FH):c.294C>G (p.Ile98Met) rs1573886484 0.00001
NM_000143.4(FH):c.317T>C (p.Val106Ala) rs1382226356 0.00001
NM_000143.4(FH):c.31T>C (p.Ser11Pro) rs1660323255 0.00001
NM_000143.4(FH):c.327T>G (p.Asp109Glu) rs757312078 0.00001
NM_000143.4(FH):c.405T>G (p.His135Gln) rs1298815479 0.00001
NM_000143.4(FH):c.412C>G (p.Leu138Val) rs1466082062 0.00001
NM_000143.4(FH):c.415G>A (p.Val139Met) rs200343823 0.00001
NM_000143.4(FH):c.417G>A (p.Val139=) rs768341401 0.00001
NM_000143.4(FH):c.41T>C (p.Leu14Pro) rs1553342163 0.00001
NM_000143.4(FH):c.42C>A (p.Leu14=) rs1660322230 0.00001
NM_000143.4(FH):c.431G>A (p.Gly144Glu) rs1057521425 0.00001
NM_000143.4(FH):c.514A>G (p.Lys172Glu) rs201154463 0.00001
NM_000143.4(FH):c.5A>G (p.Tyr2Cys) rs1553342167 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000143.4(FH):c.655G>A (p.Asp219Asn) rs11545656 0.00001
NM_000143.4(FH):c.685A>G (p.Ile229Val) rs764065194 0.00001
NM_000143.4(FH):c.73G>A (p.Ala25Thr) rs999146815 0.00001
NM_000143.4(FH):c.763G>A (p.Val255Ile) rs752144845 0.00001
NM_000143.4(FH):c.784A>G (p.Ile262Val) rs199829765 0.00001
NM_000143.4(FH):c.805A>G (p.Ile269Val) rs377015873 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000143.4(FH):c.853A>G (p.Thr285Ala) rs200791185 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000143.4(FH):c.909G>C (p.Leu303Phe) rs1659857850 0.00001
NM_000143.4(FH):c.90C>T (p.Gly30=) rs1262096783 0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly) rs1057524385 0.00001
NM_000143.4(FH):c.974G>C (p.Ser325Thr) rs1423324601 0.00001
NM_000143.4(FH):c.986A>G (p.Asn329Ser) rs768483509 0.00001
NM_000143.4(FH):c.98T>G (p.Val33Gly) rs1319755767 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.100C>T (p.Pro34Ser) rs1191023697
NM_000143.4(FH):c.1013T>C (p.Ile338Thr) rs201975537
NM_000143.4(FH):c.1025T>C (p.Ile342Thr) rs201383596
NM_000143.4(FH):c.1030T>C (p.Phe344Leu)
NM_000143.4(FH):c.1051T>G (p.Ser351Ala) rs766918221
NM_000143.4(FH):c.1069A>G (p.Ile357Val) rs1027877625
NM_000143.4(FH):c.1070T>C (p.Ile357Thr) rs1388251431
NM_000143.4(FH):c.10G>A (p.Ala4Thr) rs1573890047
NM_000143.4(FH):c.1118A>T (p.Asn373Ile) rs1060499643
NM_000143.4(FH):c.1130G>A (p.Cys377Tyr) rs1553340880
NM_000143.4(FH):c.1163T>C (p.Met388Thr) rs876660830
NM_000143.4(FH):c.1194C>T (p.Gly398=) rs1659805814
NM_000143.4(FH):c.1218T>A (p.Asn406Lys)
NM_000143.4(FH):c.1235T>C (p.Met412Thr)
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.1262G>T (p.Arg421Met) rs1659747962
NM_000143.4(FH):c.1270G>A (p.Gly424Arg) rs1553340705
NM_000143.4(FH):c.1276G>A (p.Ala426Thr)
NM_000143.4(FH):c.1282G>C (p.Val428Leu) rs1558396381
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) rs201005880
NM_000143.4(FH):c.1330A>G (p.Arg444Gly) rs749266351
NM_000143.4(FH):c.1340A>G (p.Lys447Arg) rs756326120
NM_000143.4(FH):c.1354T>A (p.Ser452Thr) rs201388169
NM_000143.4(FH):c.1379A>G (p.Asn460Ser) rs767253363
NM_000143.4(FH):c.1384C>T (p.His462Tyr) rs201625211
NM_000143.4(FH):c.1390+3_1390+6del
NM_000143.4(FH):c.1390+5G>A rs1352808353
NM_000143.4(FH):c.1390+6T>C rs1338650106
NM_000143.4(FH):c.1398C>G (p.Asp466Glu) rs1558395525
NM_000143.4(FH):c.1415C>T (p.Ala472Val) rs765643179
NM_000143.4(FH):c.1421C>T (p.Thr474Ile) rs369802820
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1434T>A (p.Asn478Lys) rs786202199
NM_000143.4(FH):c.1459A>G (p.Ile487Val) rs1391195810
NM_000143.4(FH):c.1474C>G (p.Leu492Val) rs1659663430
NM_000143.4(FH):c.1480G>C (p.Ala494Pro) rs1553340508
NM_000143.4(FH):c.148T>C (p.Phe50Leu) rs1558402284
NM_000143.4(FH):c.1493A>G (p.Asp498Gly)
NM_000143.4(FH):c.1495G>A (p.Glu499Lys) rs750838853
NM_000143.4(FH):c.1517T>G (p.Met506Arg)
NM_000143.4(FH):c.152G>C (p.Arg51Pro) rs976734433
NM_000143.4(FH):c.163G>A (p.Asp55Asn) rs1660245455
NM_000143.4(FH):c.16C>G (p.Arg6Gly)
NM_000143.4(FH):c.181A>C (p.Lys61Gln) rs1660244612
NM_000143.4(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.4(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.4(FH):c.209C>T (p.Ala70Val) rs1573888433
NM_000143.4(FH):c.239A>C (p.Lys80Thr) rs1660241142
NM_000143.4(FH):c.240G>C (p.Lys80Asn) rs1573888362
NM_000143.4(FH):c.254C>G (p.Thr85Arg) rs1324632356
NM_000143.4(FH):c.265C>T (p.Pro89Ser)
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup) rs1395036789
NM_000143.4(FH):c.279T>G (p.Ile93Met) rs2147923086
NM_000143.4(FH):c.284C>T (p.Ala95Val) rs1660148115
NM_000143.4(FH):c.339T>A (p.Asp113Glu) rs1029743950
NM_000143.4(FH):c.354T>G (p.Asn118Lys) rs1465574376
NM_000143.4(FH):c.367G>C (p.Ala123Pro) rs1660144128
NM_000143.4(FH):c.370G>A (p.Ala124Thr) rs1660143983
NM_000143.4(FH):c.378+6A>G rs1348359637
NM_000143.4(FH):c.379G>T (p.Val127Leu) rs878853693
NM_000143.4(FH):c.382G>A (p.Ala128Thr) rs1553341620
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.4(FH):c.410C>T (p.Pro137Leu) rs1660101853
NM_000143.4(FH):c.418G>C (p.Val140Leu) rs746195750
NM_000143.4(FH):c.44T>C (p.Val15Ala) rs1660322018
NM_000143.4(FH):c.452T>C (p.Met151Thr) rs1660099266
NM_000143.4(FH):c.509G>A (p.Gly170Asp) rs1573885360
NM_000143.4(FH):c.517A>T (p.Ile173Leu) rs1558400504
NM_000143.4(FH):c.527A>G (p.His176Arg) rs1158759883
NM_000143.4(FH):c.535G>A (p.Asp179Asn) rs1553341588
NM_000143.4(FH):c.555+3C>A rs1660094654
NM_000143.4(FH):c.555+4A>G rs776240700
NM_000143.4(FH):c.574C>T (p.Pro192Ser) rs1573883345
NM_000143.4(FH):c.599C>T (p.Ala200Val) rs1659997677
NM_000143.4(FH):c.59C>T (p.Ala20Val) rs1573889953
NM_000143.4(FH):c.601A>G (p.Ile201Val) rs1659997422
NM_000143.4(FH):c.602T>C (p.Ile201Thr) rs1476664795
NM_000143.4(FH):c.610C>A (p.His204Asn) rs863223996
NM_000143.4(FH):c.647A>T (p.Asp216Val) rs1553341348
NM_000143.4(FH):c.648T>G (p.Asp216Glu) rs199536615
NM_000143.4(FH):c.658_659delinsTT (p.Ala220Leu) rs1060500893
NM_000143.4(FH):c.668A>C (p.Lys223Thr) rs1064795294
NM_000143.4(FH):c.668A>T (p.Lys223Ile) rs1064795294
NM_000143.4(FH):c.67G>A (p.Ala23Thr) rs1573889943
NM_000143.4(FH):c.680A>G (p.Gln227Arg)
NM_000143.4(FH):c.691A>C (p.Ile231Leu) rs1659991322
NM_000143.4(FH):c.692T>C (p.Ile231Thr) rs1335587342
NM_000143.4(FH):c.733G>A (p.Gly245Arg) rs1287444534
NM_000143.4(FH):c.734G>A (p.Gly245Glu)
NM_000143.4(FH):c.776T>A (p.Met259Lys) rs1407485828
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.4(FH):c.807C>G (p.Ile269Met)
NM_000143.4(FH):c.820G>C (p.Ala274Pro) rs1060499638
NM_000143.4(FH):c.862G>A (p.Gly288Ser)
NM_000143.4(FH):c.874A>C (p.Lys292Gln) rs771087739
NM_000143.4(FH):c.877G>A (p.Val293Ile) rs749029092
NM_000143.4(FH):c.904+2dup rs1573881536
NM_000143.4(FH):c.904G>A (p.Gly302Ser) rs200412958
NM_000143.4(FH):c.905-5T>A rs886046318
NM_000143.4(FH):c.905G>A (p.Gly302Asp) rs1162334354
NM_000143.4(FH):c.911C>G (p.Pro304Arg) rs200491078
NM_000143.4(FH):c.943C>G (p.Leu315Val) rs1573880536
NM_000143.4(FH):c.958G>T (p.Ala320Ser) rs766441385
NM_000143.4(FH):c.968A>G (p.Glu323Gly)
NM_000143.4(FH):c.979G>A (p.Ala327Thr) rs1333344957

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