List of variants in gene FH studied for Fumarase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 287

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000143.4(FH):c.1302C>T (p.Cys434=)	rs2070080	0.03163
NM_000143.4(FH):c.309C>T (p.Ala103=)	rs10926501	0.02876
NM_000143.4(FH):c.927G>A (p.Pro309=)	rs61737760	0.02428
NM_000143.4(FH):c.221_222del	rs112946286	0.01684
NM_000143.4(FH):c.904+47G>A	rs145209119	0.01502
NM_000143.4(FH):c.53C>T (p.Pro18Leu)	rs201887750	0.00597
NM_000143.4(FH):c.1236+14C>T	rs149241949	0.00157
NM_000143.4(FH):c.-11C>T	rs200942733	0.00113
NM_000143.4(FH):c.105G>A (p.Ser35=)	rs181655698	0.00066
NM_000143.4(FH):c.77C>T (p.Pro26Leu)	rs187226800	0.00051
NM_000143.4(FH):c.1299C>T (p.Asn433=)	rs201994824	0.00047
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.739-10T>C	rs201971572	0.00013
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.1127A>C (p.Gln376Pro)	rs200796606	0.00005
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.21C>T (p.Leu7=)	rs1263147931	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.521C>G (p.Pro174Arg)	rs199822819	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.698G>A (p.Arg233His)	rs121913123	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.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.702T>G (p.Thr234=)	rs201083387	0.00002
NM_000143.4(FH):c.797T>C (p.Met266Thr)	rs764648497	0.00002
NM_000143.4(FH):c.926C>T (p.Pro309Leu)	rs756528378	0.00002
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)	rs398123159	0.00001
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.1092A>G (p.Gly364=)	rs1361977903	0.00001
NM_000143.4(FH):c.1109-7C>T	rs1060504079	0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	rs863224007	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.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.194A>G (p.Asp65Gly)	rs145116688	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.301C>T (p.Arg101Ter)	rs121913120	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.354T>C (p.Asn118=)	rs1465574376	0.00001
NM_000143.4(FH):c.379-10T>G	rs201020261	0.00001
NM_000143.4(FH):c.39C>T (p.Pro13=)	rs1060504077	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.414C>T (p.Leu138=)	rs540968725	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.553_554insTG (p.Gln185fs)	rs768182640	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.697C>T (p.Arg233Cys)	rs587781682	0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala)	rs372505976	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.771T>C (p.Tyr257=)	rs199909758	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.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
NC_000001.11:g.(?_241497557)_(241504245_?)del
NC_000001.11:g.(?_241497603..241519755_?)del
NC_000001.11:g.(?_241497818)_(241502580_?)del
NC_000001.11:g.(?_241497818)_(241504255_?)del
NC_000001.11:g.(?_241497818)_(241508795_?)del
NC_000001.11:g.(?_241505993)_(241506183_?)del
NC_000001.11:g.(?_241505997)_(241506174_?)del
NC_000001.11:g.(?_241519581)_(241519732_?)del
NC_000001.11:g.(?_241519585)_(241519728_?)del
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.1027C>T (p.Arg343Ter)	rs121913122
NM_000143.4(FH):c.1030T>C (p.Phe344Leu)
NM_000143.4(FH):c.1051T>G (p.Ser351Ala)	rs766918221
NM_000143.4(FH):c.105G>C (p.Ser35=)	rs181655698
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.1082del (p.Asn361fs)	rs1553341012
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)	rs756469140
NM_000143.4(FH):c.1084G>C (p.Glu362Gln)	rs121913119
NM_000143.4(FH):c.10G>A (p.Ala4Thr)	rs1573890047
NM_000143.4(FH):c.1108+10T>C	rs201513242
NM_000143.4(FH):c.1108+1G>A	rs1057517734
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.1158_1160del (p.Gln386_Val387delinsHis)	rs1659807516
NM_000143.4(FH):c.1163T>C (p.Met388Thr)	rs876660830
NM_000143.4(FH):c.1165_1174del (p.Gly389fs)	rs1573879313
NM_000143.4(FH):c.1169A>G (p.Asn390Ser)	rs1178007598
NM_000143.4(FH):c.1194C>T (p.Gly398=)	rs1659805814
NM_000143.4(FH):c.1209del (p.Phe403fs)	rs1060499644
NM_000143.4(FH):c.1237-14_1237-9dup	rs779985493
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.1274A>T (p.Asp425Val)	rs1038324354
NM_000143.4(FH):c.127C>T (p.Arg43Ter)	rs200496951
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.1293del (p.Glu432fs)	rs398123163
NM_000143.4(FH):c.1330A>C (p.Arg444=)	rs749266351
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.1370_1371insTCAC (p.Ala458fs)	rs863223992
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+1G>T	rs886039367
NM_000143.4(FH):c.1390+2T>C	rs1558396285
NM_000143.4(FH):c.1390+5G>A	rs1352808353
NM_000143.4(FH):c.1390+6T>C	rs1338650106
NM_000143.4(FH):c.1391-1G>T
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.1443C>T (p.Thr481=)	rs780200136
NM_000143.4(FH):c.1445T>G (p.Leu482Ter)	rs1064796708
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.1483G>T (p.Glu495Ter)
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.171T>C (p.Phe57=)	rs1573888522
NM_000143.4(FH):c.181A>C (p.Lys61Gln)	rs1660244612
NM_000143.4(FH):c.1A>C (p.Met1Leu)	rs776806414
NM_000143.4(FH):c.1A>T (p.Met1Leu)	rs776806414
NM_000143.4(FH):c.209C>T (p.Ala70Val)	rs1573888433
NM_000143.4(FH):c.214A>C (p.Thr72Pro)	rs886039362
NM_000143.4(FH):c.239A>C (p.Lys80Thr)	rs1660241142
NM_000143.4(FH):c.239dup (p.Ile81fs)	rs1553341942
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.268-2A>G	rs1064793741
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.285T>C (p.Ala95=)	rs973577283
NM_000143.4(FH):c.29_32delinsTT (p.Arg10fs)
NM_000143.4(FH):c.32C>A (p.Ser11Ter)
NM_000143.4(FH):c.337del (p.Asp113fs)
NM_000143.4(FH):c.339T>A (p.Asp113Glu)	rs1029743950
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+1G>A	rs1660143675
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.40_41insG (p.Leu14fs)
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.420A>G (p.Val140=)	rs1180706892
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.490del (p.Met164fs)
NM_000143.4(FH):c.504del (p.Glu168fs)	rs776190273
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+1G>A	rs1375252870
NM_000143.4(FH):c.555+3C>A	rs1660094654
NM_000143.4(FH):c.555+4A>G	rs776240700
NM_000143.4(FH):c.563del (p.Asn188fs)	rs1131691248
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.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.65T>A (p.Leu22Ter)	rs1031919395
NM_000143.4(FH):c.664T>C (p.Ser222Pro)	rs1448268784
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.668_669del (p.Lys223fs)	rs886039364
NM_000143.4(FH):c.67G>A (p.Ala23Thr)	rs1573889943
NM_000143.4(FH):c.689A>G (p.Lys230Arg)	rs752232718
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.729T>C (p.Thr243=)	rs1573883071
NM_000143.4(FH):c.738+2T>C	rs1060500901
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.793G>A (p.Ala265Thr)	rs387906545
NM_000143.4(FH):c.7C>T (p.Arg3Ter)	rs202166344
NM_000143.4(FH):c.839del (p.Gly280fs)
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.905-10T>G	rs1060504080
NM_000143.4(FH):c.905-1G>A	rs797044973
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.912_918del (p.Phe305fs)	rs794727836
NM_000143.4(FH):c.943C>G (p.Leu315Val)	rs1573880536
NM_000143.4(FH):c.952C>T (p.His318Tyr)	rs398123168
NM_000143.4(FH):c.958G>T (p.Ala320Ser)	rs766441385
NM_000143.4(FH):c.979G>A (p.Ala327Thr)	rs1333344957

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.