ClinVar Miner

List of variants in gene FH reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 430
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_241661118)_(241683032_?)dup
NC_000001.10:g.(?_241661122)_(241683028_?)dup
NC_000001.11:g.(?_241497828)_(241519722_?)dup
NC_000001.11:g.(?_241517172)_(241519722_?)dup
NC_000001.11:g.241519779G>C
NM_000143.3(FH):c.*102T>C rs200093224
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.-3A>G rs202145941
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=) rs1558397757
NM_000143.3(FH):c.1036G>A (p.Gly346Ser) rs1553341024
NM_000143.3(FH):c.103T>C (p.Ser35Pro) rs1573889890
NM_000143.3(FH):c.1040C>T (p.Ser347Phe) rs1573880377
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.1051T>G (p.Ser351Ala) rs766918221
NM_000143.3(FH):c.1061G>A (p.Gly354Glu) rs1057523184
NM_000143.3(FH):c.1088C>G (p.Pro363Arg) rs1483975363
NM_000143.3(FH):c.1094G>A (p.Ser365Asn) rs1131691238
NM_000143.3(FH):c.10G>A (p.Ala4Thr) rs1573890047
NM_000143.3(FH):c.1109-7C>T rs1060504079
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) rs1060499643
NM_000143.3(FH):c.1123A>G (p.Thr375Ala) rs1573879366
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.1151C>T (p.Ala384Val) rs904463039
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) rs1372936109
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) rs760360724
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.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1231A>G (p.Met411Val) rs201381362
NM_000143.3(FH):c.1236G>A (p.Met412Ile) rs1573879248
NM_000143.3(FH):c.1237-12A>T rs74405673
NM_000143.3(FH):c.1237-50TC[17] rs144131869
NM_000143.3(FH):c.1237-50TC[18] rs144131869
NM_000143.3(FH):c.1237-50TC[22] rs144131869
NM_000143.3(FH):c.1237-50TC[23] rs144131869
NM_000143.3(FH):c.1237-50TC[24] rs144131869
NM_000143.3(FH):c.1237-50TC[25] rs144131869
NM_000143.3(FH):c.1237-5C>G rs200926050
NM_000143.3(FH):c.1237-5_1237-4insCTCT rs886046316
NM_000143.3(FH):c.1237-7C>T rs376260223
NM_000143.3(FH):c.1237-9_1237-8insCTCTCT 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.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) rs749266351
NM_000143.3(FH):c.1354T>A (p.Ser452Thr) rs201388169
NM_000143.3(FH):c.1362G>A (p.Met454Ile) rs766177929
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) rs1558395525
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.1415C>T (p.Ala472Val) rs765643179
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_1433dup (p.Lys477dup) rs367543046
NM_000143.3(FH):c.1433A>G (p.Asn478Ser) rs201886827
NM_000143.3(FH):c.1434T>A (p.Asn478Lys) rs786202199
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) rs1558395446
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.1482A>G (p.Ala494=) rs201559643
NM_000143.3(FH):c.14T>C (p.Leu5Pro) rs200099371
NM_000143.3(FH):c.1506dup (p.Pro503fs) rs886041202
NM_000143.3(FH):c.1508_1509insCAAACC (p.Pro503_Lys504dup) rs1060500895
NM_000143.3(FH):c.151C>T (p.Arg51Trp) rs778678782
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.152G>C (p.Arg51Pro) rs976734433
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) rs11545659
NM_000143.3(FH):c.187C>T (p.Pro63Ser) rs1573888488
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.208G>A (p.Ala70Thr) rs587782207
NM_000143.3(FH):c.209C>T (p.Ala70Val) rs1573888433
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.227C>T (p.Thr76Met) rs778578307
NM_000143.3(FH):c.230T>C (p.Met77Thr) rs1250096728
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) rs1401508226
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.327T>G (p.Asp109Glu) rs757312078
NM_000143.3(FH):c.339T>A (p.Asp113Glu) rs1029743950
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) rs200738857
NM_000143.3(FH):c.356C>T (p.Ala119Val) rs1395827785
NM_000143.3(FH):c.358A>G (p.Ile120Val) rs199641124
NM_000143.3(FH):c.35G>T (p.Arg12Leu) rs367826177
NM_000143.3(FH):c.379-15A>T rs374529177
NM_000143.3(FH):c.379G>T (p.Val127Leu) rs878853693
NM_000143.3(FH):c.37C>A (p.Pro13Thr) rs587778360
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.40dup (p.Leu14fs) rs1060500900
NM_000143.3(FH):c.412C>G (p.Leu138Val) rs1466082062
NM_000143.3(FH):c.415G>A (p.Val139Met) rs200343823
NM_000143.3(FH):c.416T>G (p.Val139Gly) rs1573885528
NM_000143.3(FH):c.417G>A (p.Val139=) rs768341401
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.450T>A (p.Asn150Lys) rs1131691242
NM_000143.3(FH):c.451A>T (p.Met151Leu) rs749752047
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) rs746612719
NM_000143.3(FH):c.49G>C (p.Ala17Pro) rs755886213
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) rs1573885382
NM_000143.3(FH):c.509G>A (p.Gly170Asp) rs1573885360
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.520C>A (p.Pro174Thr) rs1553341598
NM_000143.3(FH):c.521C>A (p.Pro174His) rs199822819
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.527A>G (p.His176Arg) rs1158759883
NM_000143.3(FH):c.535G>A (p.Asp179Asn) rs1553341588
NM_000143.3(FH):c.539A>G (p.His180Arg) rs863224015
NM_000143.3(FH):c.545A>G (p.Asn182Ser) rs1558400468
NM_000143.3(FH):c.552C>G (p.Ser184Arg) rs377660762
NM_000143.3(FH):c.554A>C (p.Gln185Pro) rs779707997
NM_000143.3(FH):c.555+3del rs1553341583
NM_000143.3(FH):c.555+4A>G rs776240700
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.578C>T (p.Thr193Ile) rs1573883332
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.586C>T (p.His196Tyr) rs1553341363
NM_000143.3(FH):c.587A>G (p.His196Arg) rs763601207
NM_000143.3(FH):c.591_593TGC[2] (p.Ala200del) rs786202907
NM_000143.3(FH):c.593C>G (p.Ala198Gly) rs1414507017
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) rs1060500898
NM_000143.3(FH):c.616G>A (p.Val206Ile) rs763183520
NM_000143.3(FH):c.616G>T (p.Val206Leu) 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.63C>T (p.Ala21=) rs555404867
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) rs995196012
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>C (p.Lys223Thr) rs1064795294
NM_000143.3(FH):c.668A>T (p.Lys223Ile) 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.677C>A (p.Ala226Glu) rs778786425
NM_000143.3(FH):c.683T>C (p.Ile228Thr) rs753773918
NM_000143.3(FH):c.685A>G (p.Ile229Val) rs764065194
NM_000143.3(FH):c.687C>G (p.Ile229Met) rs755587163
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.701C>T (p.Thr234Ile) rs878853695
NM_000143.3(FH):c.705T>G (p.His235Gln) rs919993170
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.74C>T (p.Ala25Val) rs1573889933
NM_000143.3(FH):c.759A>G (p.Gln253=) rs147518314
NM_000143.3(FH):c.773C>T (p.Ala258Val) rs1553341166
NM_000143.3(FH):c.776T>A (p.Met259Lys) rs1407485828
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) 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.839G>A (p.Gly280Asp) rs863223969
NM_000143.3(FH):c.853A>G (p.Thr285Ala) rs200791185
NM_000143.3(FH):c.877G>A (p.Val293Ile) rs749029092
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.893C>G (p.Ala298Gly) rs1573881563
NM_000143.3(FH):c.894_896del (p.Ala299del) rs863223986
NM_000143.3(FH):c.905-3T>C rs1573880626
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=) 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.92C>T (p.Ala31Val) rs876659347
NM_000143.3(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.3(FH):c.944T>C (p.Leu315Pro) rs1573880531
NM_000143.3(FH):c.947del (p.Ala316fs) rs1558397845
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) rs1423324601
NM_000143.3(FH):c.976G>A (p.Gly326Arg) rs1553341038
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) rs776313200
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_000143.4(FH):c.*211G>C
NM_000143.4(FH):c.-14G>C
NM_000143.4(FH):c.1000A>G (p.Ser334Gly) rs587782216
NM_000143.4(FH):c.1003C>G (p.Leu335Val)
NM_000143.4(FH):c.1016C>A (p.Ala339Glu)
NM_000143.4(FH):c.1028G>A (p.Arg343Gln) rs756990249
NM_000143.4(FH):c.104C>G (p.Ser35Trp) rs942065027
NM_000143.4(FH):c.1051T>A (p.Ser351Thr)
NM_000143.4(FH):c.1070T>C (p.Ile357Thr) rs1388251431
NM_000143.4(FH):c.1109-3A>G
NM_000143.4(FH):c.1119C>A (p.Asn373Lys)
NM_000143.4(FH):c.111G>T (p.Trp37Cys) rs1573889881
NM_000143.4(FH):c.1128G>T (p.Gln376His) rs1467002768
NM_000143.4(FH):c.1162A>G (p.Met388Val) rs1573879331
NM_000143.4(FH):c.1172A>C (p.His391Pro)
NM_000143.4(FH):c.1194C>T (p.Gly398=)
NM_000143.4(FH):c.1196G>A (p.Ser399Asn)
NM_000143.4(FH):c.11C>A (p.Ala4Glu)
NM_000143.4(FH):c.120C>G (p.Asn40Lys) rs876658186
NM_000143.4(FH):c.1227G>C (p.Lys409Asn)
NM_000143.4(FH):c.1229C>G (p.Pro410Arg)
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.123G>A (p.Ala41=)
NM_000143.4(FH):c.1251A>C (p.Leu417Phe) rs1573878136
NM_000143.4(FH):c.1262G>C (p.Arg421Thr)
NM_000143.4(FH):c.1262G>T (p.Arg421Met)
NM_000143.4(FH):c.1263G>T (p.Arg421Ser)
NM_000143.4(FH):c.1280C>T (p.Ser427Leu) rs1573878095
NM_000143.4(FH):c.1291A>G (p.Thr431Ala)
NM_000143.4(FH):c.1300T>C (p.Cys434Arg)
NM_000143.4(FH):c.1306G>A (p.Val436Met) rs1324526971
NM_000143.4(FH):c.1324A>G (p.Thr442Ala)
NM_000143.4(FH):c.133G>T (p.Ala45Ser) rs1260007300
NM_000143.4(FH):c.1348A>G (p.Asn450Asp)
NM_000143.4(FH):c.1390+6T>C
NM_000143.4(FH):c.1390G>A (p.Gly464Arg) rs1573877922
NM_000143.4(FH):c.13C>G (p.Leu5Val)
NM_000143.4(FH):c.1429A>G (p.Lys477Glu)
NM_000143.4(FH):c.1430A>C (p.Lys477Thr)
NM_000143.4(FH):c.1474C>G (p.Leu492Val)
NM_000143.4(FH):c.1477A>G (p.Thr493Ala)
NM_000143.4(FH):c.1481C>T (p.Ala494Val)
NM_000143.4(FH):c.1495G>A (p.Glu499Lys) rs750838853
NM_000143.4(FH):c.1522G>C (p.Gly508Arg)
NM_000143.4(FH):c.154A>G (p.Ile52Val)
NM_000143.4(FH):c.159A>G (p.Glu53=)
NM_000143.4(FH):c.163G>A (p.Asp55Asn)
NM_000143.4(FH):c.164A>G (p.Asp55Gly)
NM_000143.4(FH):c.167C>G (p.Thr56Ser) rs1433872618
NM_000143.4(FH):c.167C>T (p.Thr56Ile) rs1433872618
NM_000143.4(FH):c.181A>C (p.Lys61Gln)
NM_000143.4(FH):c.183G>C (p.Lys61Asn)
NM_000143.4(FH):c.193G>T (p.Asp65Tyr)
NM_000143.4(FH):c.199T>G (p.Tyr67Asp)
NM_000143.4(FH):c.199_201TAT[1] (p.Tyr68del) rs1573888450
NM_000143.4(FH):c.22C>G (p.Leu8Val)
NM_000143.4(FH):c.234C>A (p.Asn78Lys) rs993218685
NM_000143.4(FH):c.240G>C (p.Lys80Asn)
NM_000143.4(FH):c.260G>A (p.Arg87His) rs200007371
NM_000143.4(FH):c.260G>T (p.Arg87Leu)
NM_000143.4(FH):c.262A>C (p.Met88Leu)
NM_000143.4(FH):c.267A>G (p.Pro89=)
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup)
NM_000143.4(FH):c.272C>T (p.Pro91Leu)
NM_000143.4(FH):c.278T>C (p.Ile93Thr)
NM_000143.4(FH):c.289G>C (p.Gly97Arg)
NM_000143.4(FH):c.28C>T (p.Arg10Cys)
NM_000143.4(FH):c.294C>G (p.Ile98Met) rs1573886484
NM_000143.4(FH):c.2T>C (p.Met1Thr) rs201261794
NM_000143.4(FH):c.308C>T (p.Ala103Val) rs1256116208
NM_000143.4(FH):c.310G>A (p.Ala104Thr)
NM_000143.4(FH):c.317T>C (p.Val106Ala) rs1382226356
NM_000143.4(FH):c.326A>T (p.Asp109Val) rs1573886432
NM_000143.4(FH):c.332G>A (p.Gly111Asp)
NM_000143.4(FH):c.34C>T (p.Arg12Cys)
NM_000143.4(FH):c.378+3A>C rs774403932
NM_000143.4(FH):c.378+5G>A
NM_000143.4(FH):c.378+6A>G
NM_000143.4(FH):c.38C>T (p.Pro13Leu) rs1190505598
NM_000143.4(FH):c.405T>G (p.His135Gln)
NM_000143.4(FH):c.410C>G (p.Pro137Arg)
NM_000143.4(FH):c.410C>T (p.Pro137Leu)
NM_000143.4(FH):c.424C>G (p.Gln142Glu) rs1355199594
NM_000143.4(FH):c.42C>A (p.Leu14=)
NM_000143.4(FH):c.43G>T (p.Val15Leu) rs1463008959
NM_000143.4(FH):c.44T>C (p.Val15Ala)
NM_000143.4(FH):c.452T>A (p.Met151Lys)
NM_000143.4(FH):c.452T>C (p.Met151Thr)
NM_000143.4(FH):c.469A>G (p.Ile157Val)
NM_000143.4(FH):c.473G>T (p.Ser158Ile)
NM_000143.4(FH):c.47G>C (p.Arg16Pro) rs762310232
NM_000143.4(FH):c.481G>A (p.Ala161Thr) rs1573885421
NM_000143.4(FH):c.496G>A (p.Gly166Arg)
NM_000143.4(FH):c.508G>T (p.Gly170Cys) rs1573885366
NM_000143.4(FH):c.512G>A (p.Ser171Asn)
NM_000143.4(FH):c.551G>C (p.Ser184Thr)
NM_000143.4(FH):c.555+3C>A
NM_000143.4(FH):c.555G>T (p.Gln185His)
NM_000143.4(FH):c.574C>T (p.Pro192Ser) rs1573883345
NM_000143.4(FH):c.575C>T (p.Pro192Leu) rs1573883342
NM_000143.4(FH):c.589A>G (p.Ile197Val)
NM_000143.4(FH):c.58G>A (p.Ala20Thr) rs572324497
NM_000143.4(FH):c.59C>T (p.Ala20Val) rs1573889953
NM_000143.4(FH):c.602T>C (p.Ile201Thr)
NM_000143.4(FH):c.612T>A (p.His204Gln)
NM_000143.4(FH):c.612T>G (p.His204Gln)
NM_000143.4(FH):c.644A>T (p.His215Leu)
NM_000143.4(FH):c.65T>G (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.67G>A (p.Ala23Thr) rs1573889943
NM_000143.4(FH):c.691A>G (p.Ile231Val)
NM_000143.4(FH):c.697C>G (p.Arg233Gly) rs587781682
NM_000143.4(FH):c.704A>G (p.His235Arg)
NM_000143.4(FH):c.712G>A (p.Asp238Asn)
NM_000143.4(FH):c.721C>G (p.Pro241Ala)
NM_000143.4(FH):c.738+14A>G
NM_000143.4(FH):c.738+3A>G
NM_000143.4(FH):c.738+4T>G rs1203519378
NM_000143.4(FH):c.73G>A (p.Ala25Thr) rs999146815
NM_000143.4(FH):c.763G>A (p.Val255Ile) rs752144845
NM_000143.4(FH):c.784A>C (p.Ile262Leu)
NM_000143.4(FH):c.784A>G (p.Ile262Val)
NM_000143.4(FH):c.788A>C (p.Lys263Thr) rs765997824
NM_000143.4(FH):c.818C>T (p.Ala273Val) rs1573881663
NM_000143.4(FH):c.81C>T (p.Gly27=)
NM_000143.4(FH):c.838G>A (p.Gly280Ser)
NM_000143.4(FH):c.845G>T (p.Gly282Val)
NM_000143.4(FH):c.848T>C (p.Leu283Ser)
NM_000143.4(FH):c.874A>C (p.Lys292Gln) rs771087739
NM_000143.4(FH):c.880G>A (p.Ala294Thr)
NM_000143.4(FH):c.8G>C (p.Arg3Pro) rs1573890051
NM_000143.4(FH):c.903A>C (p.Thr301=)
NM_000143.4(FH):c.904+2dup rs1573881536
NM_000143.4(FH):c.904+4A>C rs1573881535
NM_000143.4(FH):c.905-5T>G rs886046318
NM_000143.4(FH):c.905G>A (p.Gly302Asp)
NM_000143.4(FH):c.910C>T (p.Pro304Ser)
NM_000143.4(FH):c.914T>C (p.Phe305Ser) rs1439046582
NM_000143.4(FH):c.916G>A (p.Val306Ile)
NM_000143.4(FH):c.943C>G (p.Leu315Val) rs1573880536
NM_000143.4(FH):c.94G>A (p.Ala32Thr) rs1371664717
NM_000143.4(FH):c.956A>G (p.Asp319Gly)
NM_000143.4(FH):c.958G>T (p.Ala320Ser)
NM_000143.4(FH):c.959C>T (p.Ala320Val) rs202147731
NM_000143.4(FH):c.96C>A (p.Ala32=) rs750087000
NM_000143.4(FH):c.980C>T (p.Ala327Val)
NM_000143.4(FH):c.988A>G (p.Thr330Ala)

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.