ClinVar Miner

List of variants in gene FH reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
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.883G>A (p.Ala295Thr) rs145843819 0.00018
NM_000143.4(FH):c.217G>A (p.Val73Met) rs201878591 0.00010
NM_000143.4(FH):c.120C>G (p.Asn40Lys) rs876658186 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.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.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.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.685A>G (p.Ile229Val) rs764065194 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.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.664T>A (p.Ser222Thr) rs1448268784 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.104C>G (p.Ser35Trp) rs942065027 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.1447A>C (p.Lys483Gln) rs1017406473 0.00001
NM_000143.4(FH):c.1471T>C (p.Tyr491His) rs749713004 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.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.41T>C (p.Leu14Pro) rs1553342163 0.00001
NM_000143.4(FH):c.42C>A (p.Leu14=) rs1660322230 0.00001
NM_000143.4(FH):c.514A>G (p.Lys172Glu) rs201154463 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 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.805A>G (p.Ile269Val) rs377015873 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000143.4(FH):c.90C>T (p.Gly30=) rs1262096783 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_000143.4(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.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.1163T>C (p.Met388Thr) rs876660830
NM_000143.4(FH):c.1194C>T (p.Gly398=) rs1659805814
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.1282G>C (p.Val428Leu) rs1558396381
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) rs201005880
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+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.1434T>A (p.Asn478Lys) rs786202199
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.1495G>A (p.Glu499Lys) rs750838853
NM_000143.4(FH):c.152G>C (p.Arg51Pro) rs976734433
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.254C>G (p.Thr85Arg) rs1324632356
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup) rs1395036789
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.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.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.517A>T (p.Ile173Leu) rs1558400504
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.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.647A>T (p.Asp216Val) rs1553341348
NM_000143.4(FH):c.648T>G (p.Asp216Glu) rs199536615
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.691A>C (p.Ile231Leu) rs1659991322
NM_000143.4(FH):c.692T>C (p.Ile231Thr) rs1335587342
NM_000143.4(FH):c.874A>C (p.Lys292Gln) rs771087739
NM_000143.4(FH):c.904G>A (p.Gly302Ser) rs200412958
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.979G>A (p.Ala327Thr) rs1333344957

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