ClinVar Miner

List of variants in gene FH reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 376
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HGVS dbSNP gnomAD frequency
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.994G>A (p.Ala332Thr) rs1157768121 0.00005
NM_000143.4(FH):c.-3A>G rs202145941 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.40C>T (p.Leu14Phe) rs981562354 0.00003
NM_000143.4(FH):c.616G>A (p.Val206Ile) rs763183520 0.00003
NM_000143.4(FH):c.1049G>A (p.Arg350Gln) rs749316923 0.00002
NM_000143.4(FH):c.116C>T (p.Pro39Leu) rs1415259326 0.00002
NM_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000143.4(FH):c.352A>G (p.Asn118Asp) rs200738857 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.772G>A (p.Ala258Thr) rs751210164 0.00002
NM_000143.4(FH):c.797T>C (p.Met266Thr) rs764648497 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.104C>T (p.Ser35Leu) rs942065027 0.00001
NM_000143.4(FH):c.1128G>T (p.Gln376His) rs1467002768 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.1231A>G (p.Met411Val) rs201381362 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.133-3T>C rs1553341989 0.00001
NM_000143.4(FH):c.1347G>C (p.Met449Ile) rs376502356 0.00001
NM_000143.4(FH):c.1408A>G (p.Lys470Glu) rs922905323 0.00001
NM_000143.4(FH):c.1426C>T (p.His476Tyr) rs1484545927 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.1472A>G (p.Tyr491Cys) rs773801940 0.00001
NM_000143.4(FH):c.1477A>G (p.Thr493Ala) rs777256203 0.00001
NM_000143.4(FH):c.1501G>A (p.Val501Ile) rs201893992 0.00001
NM_000143.4(FH):c.154A>T (p.Ile52Leu) rs543844061 0.00001
NM_000143.4(FH):c.167C>G (p.Thr56Ser) rs1433872618 0.00001
NM_000143.4(FH):c.184G>A (p.Val62Met) rs199894369 0.00001
NM_000143.4(FH):c.190A>G (p.Asn64Asp) rs886046319 0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val) rs776806414 0.00001
NM_000143.4(FH):c.203A>G (p.Tyr68Cys) rs1472397242 0.00001
NM_000143.4(FH):c.227C>T (p.Thr76Met) rs778578307 0.00001
NM_000143.4(FH):c.28C>T (p.Arg10Cys) rs201507555 0.00001
NM_000143.4(FH):c.292A>G (p.Ile98Val) rs1660147766 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.332G>A (p.Gly111Asp) rs764340490 0.00001
NM_000143.4(FH):c.34C>T (p.Arg12Cys) rs199912971 0.00001
NM_000143.4(FH):c.378+3A>C rs774403932 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.417G>A (p.Val139=) rs768341401 0.00001
NM_000143.4(FH):c.41T>C (p.Leu14Pro) rs1553342163 0.00001
NM_000143.4(FH):c.424C>G (p.Gln142Glu) rs1355199594 0.00001
NM_000143.4(FH):c.43G>T (p.Val15Leu) rs1463008959 0.00001
NM_000143.4(FH):c.46C>T (p.Arg16Trp) rs1324875131 0.00001
NM_000143.4(FH):c.492G>C (p.Met164Ile) rs1370195868 0.00001
NM_000143.4(FH):c.514A>G (p.Lys172Glu) rs201154463 0.00001
NM_000143.4(FH):c.556-5A>G rs1060500892 0.00001
NM_000143.4(FH):c.589A>G (p.Ile197Val) rs201764931 0.00001
NM_000143.4(FH):c.58G>A (p.Ala20Thr) rs572324497 0.00001
NM_000143.4(FH):c.611A>T (p.His204Leu) rs1060500898 0.00001
NM_000143.4(FH):c.62C>G (p.Ala21Gly) rs1131691251 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000143.4(FH):c.658G>A (p.Ala220Thr) rs747135440 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.788A>C (p.Lys263Thr) rs765997824 0.00001
NM_000143.4(FH):c.805A>G (p.Ile269Val) rs377015873 0.00001
NM_000143.4(FH):c.80G>C (p.Gly27Ala) rs1339215584 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000143.4(FH):c.830C>G (p.Thr277Ser) rs1553341160 0.00001
NM_000143.4(FH):c.889G>A (p.Val297Met) rs1245254230 0.00001
NM_000143.4(FH):c.909G>C (p.Leu303Phe) rs1659857850 0.00001
NM_000143.4(FH):c.959C>T (p.Ala320Val) rs202147731 0.00001
NM_000143.4(FH):c.961C>G (p.Leu321Val) rs763077972 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.-1C>A
NM_000143.4(FH):c.-1C>G
NM_000143.4(FH):c.-1C>T
NM_000143.4(FH):c.-2C>A
NM_000143.4(FH):c.-3A>C
NM_000143.4(FH):c.-3A>T
NM_000143.4(FH):c.-5G>A
NM_000143.4(FH):c.-5del
NM_000143.4(FH):c.-6_-5delinsCA
NM_000143.4(FH):c.1000A>G (p.Ser334Gly) rs587782216
NM_000143.4(FH):c.100C>T (p.Pro34Ser) rs1191023697
NM_000143.4(FH):c.1012A>T (p.Ile338Leu)
NM_000143.4(FH):c.1016C>T (p.Ala339Val) rs1659852423
NM_000143.4(FH):c.1025T>C (p.Ile342Thr) rs201383596
NM_000143.4(FH):c.1030T>C (p.Phe344Leu)
NM_000143.4(FH):c.1045C>G (p.Pro349Ala) rs1254962869
NM_000143.4(FH):c.1046C>G (p.Pro349Arg) rs1553341017
NM_000143.4(FH):c.1051T>G (p.Ser351Ala) rs766918221
NM_000143.4(FH):c.1058T>C (p.Leu353Pro)
NM_000143.4(FH):c.1061G>A (p.Gly354Glu) rs1057523184
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.1071C>G (p.Ile357Met) rs1391140770
NM_000143.4(FH):c.1085A>G (p.Glu362Gly)
NM_000143.4(FH):c.1105C>T (p.Pro369Ser)
NM_000143.4(FH):c.1109-4G>C
NM_000143.4(FH):c.110G>C (p.Trp37Ser) rs1660318244
NM_000143.4(FH):c.111G>T (p.Trp37Cys) rs1573889881
NM_000143.4(FH):c.1123A>C (p.Thr375Pro)
NM_000143.4(FH):c.1136C>A (p.Ala379Glu) rs2147914999
NM_000143.4(FH):c.1151C>T (p.Ala384Val) rs904463039
NM_000143.4(FH):c.1162A>G (p.Met388Val) rs1573879331
NM_000143.4(FH):c.1163T>C (p.Met388Thr) rs876660830
NM_000143.4(FH):c.1171C>T (p.His391Tyr)
NM_000143.4(FH):c.1187_1188delinsCT (p.Val396Ala)
NM_000143.4(FH):c.1198A>G (p.Asn400Asp) rs1131691247
NM_000143.4(FH):c.11C>A (p.Ala4Glu) rs1252151546
NM_000143.4(FH):c.1200T>G (p.Asn400Lys) rs1659805291
NM_000143.4(FH):c.1216A>G (p.Asn406Asp) rs876659362
NM_000143.4(FH):c.1219G>A (p.Val407Ile)
NM_000143.4(FH):c.121G>A (p.Ala41Thr)
NM_000143.4(FH):c.1228C>T (p.Pro410Ser) rs2147914837
NM_000143.4(FH):c.1237-3A>G rs2147913409
NM_000143.4(FH):c.1237-5C>G rs200926050
NM_000143.4(FH):c.1251A>C (p.Leu417Phe) rs1573878136
NM_000143.4(FH):c.1252C>A (p.His418Asn)
NM_000143.4(FH):c.1252C>T (p.His418Tyr)
NM_000143.4(FH):c.1262G>T (p.Arg421Met) rs1659747962
NM_000143.4(FH):c.1267C>G (p.Leu423Val)
NM_000143.4(FH):c.1280C>T (p.Ser427Leu) rs1573878095
NM_000143.4(FH):c.128G>C (p.Arg43Pro)
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) rs201005880
NM_000143.4(FH):c.1297A>T (p.Asn433Tyr) rs200121326
NM_000143.4(FH):c.1306G>A (p.Val436Met) rs1324526971
NM_000143.4(FH):c.1306G>C (p.Val436Leu)
NM_000143.4(FH):c.1306G>T (p.Val436Leu) rs1324526971
NM_000143.4(FH):c.1307T>C (p.Val436Ala)
NM_000143.4(FH):c.1319C>G (p.Ala440Gly)
NM_000143.4(FH):c.132+4A>G
NM_000143.4(FH):c.1325C>G (p.Thr442Arg) rs1060500899
NM_000143.4(FH):c.1325C>T (p.Thr442Ile)
NM_000143.4(FH):c.1338C>G (p.Asn446Lys) rs113572177
NM_000143.4(FH):c.133G>T (p.Ala45Ser) rs1260007300
NM_000143.4(FH):c.1340A>G (p.Lys447Arg) rs756326120
NM_000143.4(FH):c.1345A>T (p.Met449Leu)
NM_000143.4(FH):c.1354T>A (p.Ser452Thr) rs201388169
NM_000143.4(FH):c.1357C>G (p.Leu453Val) rs1218102979
NM_000143.4(FH):c.1360A>G (p.Met454Val)
NM_000143.4(FH):c.1366G>C (p.Val456Leu) rs200244096
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.1385A>G (p.His462Arg) rs1466657268
NM_000143.4(FH):c.1389A>G (p.Ile463Met) rs876659472
NM_000143.4(FH):c.1390+3A>G
NM_000143.4(FH):c.1390G>A (p.Gly464Arg) rs1573877922
NM_000143.4(FH):c.1391-6C>G
NM_000143.4(FH):c.1391G>A (p.Gly464Glu) rs1131691250
NM_000143.4(FH):c.13C>T (p.Leu5Phe) rs1553342165
NM_000143.4(FH):c.1403C>T (p.Ala468Val)
NM_000143.4(FH):c.1411A>G (p.Ile471Val)
NM_000143.4(FH):c.1414G>A (p.Ala472Thr)
NM_000143.4(FH):c.1420A>G (p.Thr474Ala)
NM_000143.4(FH):c.1421C>T (p.Thr474Ile) rs369802820
NM_000143.4(FH):c.1435G>A (p.Gly479Arg)
NM_000143.4(FH):c.143A>G (p.Asn48Ser)
NM_000143.4(FH):c.1446A>C (p.Leu482Phe) rs863223979
NM_000143.4(FH):c.1450G>A (p.Glu484Lys)
NM_000143.4(FH):c.1459A>G (p.Ile487Val) rs1391195810
NM_000143.4(FH):c.1459A>T (p.Ile487Phe)
NM_000143.4(FH):c.1474C>G (p.Leu492Val) rs1659663430
NM_000143.4(FH):c.1480G>A (p.Ala494Thr)
NM_000143.4(FH):c.1480G>C (p.Ala494Pro) rs1553340508
NM_000143.4(FH):c.1481C>T (p.Ala494Val) rs752369363
NM_000143.4(FH):c.1489T>C (p.Phe497Leu) rs2147911216
NM_000143.4(FH):c.1495G>A (p.Glu499Lys) rs750838853
NM_000143.4(FH):c.1498T>C (p.Trp500Arg)
NM_000143.4(FH):c.14T>C (p.Leu5Pro) rs200099371
NM_000143.4(FH):c.14T>G (p.Leu5Arg)
NM_000143.4(FH):c.1500G>C (p.Trp500Cys)
NM_000143.4(FH):c.1508C>G (p.Pro503Arg) rs1659661748
NM_000143.4(FH):c.1522G>A (p.Gly508Ser)
NM_000143.4(FH):c.1523G>A (p.Gly508Asp)
NM_000143.4(FH):c.1526C>T (p.Pro509Leu) rs1553340499
NM_000143.4(FH):c.154A>G (p.Ile52Val) rs543844061
NM_000143.4(FH):c.157G>A (p.Glu53Lys) rs863224013
NM_000143.4(FH):c.163_165del (p.Asp55del)
NM_000143.4(FH):c.166A>G (p.Thr56Ala) rs1232573732
NM_000143.4(FH):c.167C>T (p.Thr56Ile) rs1433872618
NM_000143.4(FH):c.16C>G (p.Arg6Gly)
NM_000143.4(FH):c.172G>A (p.Gly58Ser) rs11545659
NM_000143.4(FH):c.173G>A (p.Gly58Asp)
NM_000143.4(FH):c.177A>C (p.Glu59Asp)
NM_000143.4(FH):c.188C>T (p.Pro63Leu)
NM_000143.4(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.4(FH):c.199T>G (p.Tyr67Asp) rs1660243497
NM_000143.4(FH):c.199TAT[1] (p.Tyr68del) rs1573888450
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.200A>G (p.Tyr67Cys)
NM_000143.4(FH):c.202T>C (p.Tyr68His) rs1189016440
NM_000143.4(FH):c.205G>A (p.Gly69Ser)
NM_000143.4(FH):c.209C>T (p.Ala70Val) rs1573888433
NM_000143.4(FH):c.217G>C (p.Val73Leu)
NM_000143.4(FH):c.226A>G (p.Thr76Ala)
NM_000143.4(FH):c.229A>G (p.Met77Val)
NM_000143.4(FH):c.234C>A (p.Asn78Lys) rs993218685
NM_000143.4(FH):c.239A>C (p.Lys80Thr) rs1660241142
NM_000143.4(FH):c.23T>G (p.Leu8Arg)
NM_000143.4(FH):c.254C>G (p.Thr85Arg) rs1324632356
NM_000143.4(FH):c.260G>T (p.Arg87Leu) rs200007371
NM_000143.4(FH):c.265C>T (p.Pro89Ser)
NM_000143.4(FH):c.268-2A>G rs1064793741
NM_000143.4(FH):c.268A>G (p.Thr90Ala)
NM_000143.4(FH):c.272C>T (p.Pro91Leu) rs1455612736
NM_000143.4(FH):c.299A>G (p.Lys100Arg)
NM_000143.4(FH):c.29G>T (p.Arg10Leu)
NM_000143.4(FH):c.2T>A (p.Met1Lys) rs201261794
NM_000143.4(FH):c.2T>C (p.Met1Thr) rs201261794
NM_000143.4(FH):c.307G>T (p.Ala103Ser)
NM_000143.4(FH):c.308C>T (p.Ala103Val) rs1256116208
NM_000143.4(FH):c.310G>A (p.Ala104Thr) rs1303488878
NM_000143.4(FH):c.326A>T (p.Asp109Val) rs1573886432
NM_000143.4(FH):c.337G>T (p.Asp113Tyr)
NM_000143.4(FH):c.339T>A (p.Asp113Glu) rs1029743950
NM_000143.4(FH):c.34C>G (p.Arg12Gly) rs199912971
NM_000143.4(FH):c.354T>G (p.Asn118Lys) rs1465574376
NM_000143.4(FH):c.356C>T (p.Ala119Val) rs1395827785
NM_000143.4(FH):c.359T>C (p.Ile120Thr)
NM_000143.4(FH):c.367G>A (p.Ala123Thr)
NM_000143.4(FH):c.379G>T (p.Val127Leu) rs878853693
NM_000143.4(FH):c.37C>G (p.Pro13Ala) rs587778360
NM_000143.4(FH):c.37C>T (p.Pro13Ser) rs587778360
NM_000143.4(FH):c.382G>A (p.Ala128Thr) rs1553341620
NM_000143.4(FH):c.38C>T (p.Pro13Leu) rs1190505598
NM_000143.4(FH):c.393A>G (p.Lys131=)
NM_000143.4(FH):c.393A>T (p.Lys131Asn) rs2147922022
NM_000143.4(FH):c.402T>G (p.Asp134Glu)
NM_000143.4(FH):c.409C>G (p.Pro137Ala)
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.4(FH):c.410C>G (p.Pro137Arg) rs1660101853
NM_000143.4(FH):c.415G>T (p.Val139Leu)
NM_000143.4(FH):c.416T>G (p.Val139Gly) rs1573885528
NM_000143.4(FH):c.418G>A (p.Val140Ile)
NM_000143.4(FH):c.418G>C (p.Val140Leu) rs746195750
NM_000143.4(FH):c.43G>C (p.Val15Leu)
NM_000143.4(FH):c.452T>A (p.Met151Lys) rs1660099266
NM_000143.4(FH):c.452T>C (p.Met151Thr) rs1660099266
NM_000143.4(FH):c.458T>C (p.Val153Ala)
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.482C>T (p.Ala161Val) rs1307815197
NM_000143.4(FH):c.485T>C (p.Ile162Thr)
NM_000143.4(FH):c.486T>G (p.Ile162Met)
NM_000143.4(FH):c.496G>A (p.Gly166Arg) rs1660097824
NM_000143.4(FH):c.499G>T (p.Gly167Cys)
NM_000143.4(FH):c.4T>A (p.Tyr2Asn) rs112335468
NM_000143.4(FH):c.500G>T (p.Gly167Val) rs1558400520
NM_000143.4(FH):c.508G>T (p.Gly170Cys) rs1573885366
NM_000143.4(FH):c.509G>A (p.Gly170Asp) rs1573885360
NM_000143.4(FH):c.512G>A (p.Ser171Asn) rs1157774951
NM_000143.4(FH):c.513C>G (p.Ser171Arg) rs1660097007
NM_000143.4(FH):c.520C>A (p.Pro174Thr) rs1553341598
NM_000143.4(FH):c.52C>G (p.Pro18Ala) rs1660321288
NM_000143.4(FH):c.535G>A (p.Asp179Asn) rs1553341588
NM_000143.4(FH):c.536A>G (p.Asp179Gly) rs2147921775
NM_000143.4(FH):c.547A>G (p.Lys183Glu) rs2147921763
NM_000143.4(FH):c.555+3C>T
NM_000143.4(FH):c.555+4A>C
NM_000143.4(FH):c.556-11A>G
NM_000143.4(FH):c.556-3C>T
NM_000143.4(FH):c.556A>T (p.Ser186Cys) rs1131691233
NM_000143.4(FH):c.574C>T (p.Pro192Ser) rs1573883345
NM_000143.4(FH):c.586C>T (p.His196Tyr) rs1553341363
NM_000143.4(FH):c.587A>G (p.His196Arg) rs763601207
NM_000143.4(FH):c.58G>C (p.Ala20Pro)
NM_000143.4(FH):c.593C>G (p.Ala198Gly) rs1414507017
NM_000143.4(FH):c.596C>A (p.Ala199Asp)
NM_000143.4(FH):c.598G>A (p.Ala200Thr)
NM_000143.4(FH):c.59C>T (p.Ala20Val) rs1573889953
NM_000143.4(FH):c.602T>C (p.Ile201Thr) rs1476664795
NM_000143.4(FH):c.604G>A (p.Glu202Lys)
NM_000143.4(FH):c.610C>A (p.His204Asn) rs863223996
NM_000143.4(FH):c.612T>G (p.His204Gln) rs1424868653
NM_000143.4(FH):c.62C>T (p.Ala21Val) rs1131691251
NM_000143.4(FH):c.644A>G (p.His215Arg)
NM_000143.4(FH):c.644A>T (p.His215Leu) rs770141324
NM_000143.4(FH):c.646G>T (p.Asp216Tyr)
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.659C>G (p.Ala220Gly) rs758678272
NM_000143.4(FH):c.65T>A (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.667A>G (p.Lys223Glu)
NM_000143.4(FH):c.668A>C (p.Lys223Thr) rs1064795294
NM_000143.4(FH):c.671A>T (p.Glu224Val)
NM_000143.4(FH):c.674T>C (p.Phe225Ser) rs149651434
NM_000143.4(FH):c.677C>A (p.Ala226Glu) rs778786425
NM_000143.4(FH):c.679C>G (p.Gln227Glu)
NM_000143.4(FH):c.67G>A (p.Ala23Thr) rs1573889943
NM_000143.4(FH):c.680A>G (p.Gln227Arg)
NM_000143.4(FH):c.681G>T (p.Gln227His)
NM_000143.4(FH):c.683T>C (p.Ile228Thr) rs753773918
NM_000143.4(FH):c.687C>G (p.Ile229Met) rs755587163
NM_000143.4(FH):c.68C>T (p.Ala23Val) rs2147926968
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.6C>G (p.Tyr2Ter) rs199971078
NM_000143.4(FH):c.707C>T (p.Thr236Ile) rs773382103
NM_000143.4(FH):c.710A>G (p.Gln237Arg)
NM_000143.4(FH):c.712G>C (p.Asp238His)
NM_000143.4(FH):c.718G>T (p.Val240Phe)
NM_000143.4(FH):c.71C>T (p.Ser24Leu)
NM_000143.4(FH):c.722C>T (p.Pro241Leu) rs1553341319
NM_000143.4(FH):c.730C>T (p.Leu244Phe)
NM_000143.4(FH):c.731T>C (p.Leu244Pro) rs1060499636
NM_000143.4(FH):c.731T>G (p.Leu244Arg) rs1060499636
NM_000143.4(FH):c.733G>A (p.Gly245Arg) rs1287444534
NM_000143.4(FH):c.734G>A (p.Gly245Glu)
NM_000143.4(FH):c.738+4T>G rs1203519378
NM_000143.4(FH):c.740A>G (p.Glu247Gly)
NM_000143.4(FH):c.749G>A (p.Gly250Asp)
NM_000143.4(FH):c.749G>T (p.Gly250Val) rs951611697
NM_000143.4(FH):c.74C>A (p.Ala25Asp)
NM_000143.4(FH):c.764T>G (p.Val255Gly)
NM_000143.4(FH):c.770A>G (p.Tyr257Cys)
NM_000143.4(FH):c.773C>T (p.Ala258Val) rs1553341166
NM_000143.4(FH):c.777G>A (p.Met259Ile) rs1044975651
NM_000143.4(FH):c.782G>T (p.Arg261Ile) rs61736558
NM_000143.4(FH):c.782_784del (p.Arg261del)
NM_000143.4(FH):c.785T>G (p.Ile262Arg) rs786203177
NM_000143.4(FH):c.796A>T (p.Met266Leu)
NM_000143.4(FH):c.7C>T (p.Arg3Ter) rs202166344
NM_000143.4(FH):c.812A>G (p.Glu271Gly)
NM_000143.4(FH):c.814C>A (p.Leu272Ile) rs779019570
NM_000143.4(FH):c.818C>T (p.Ala273Val) rs1573881663
NM_000143.4(FH):c.820G>T (p.Ala274Ser)
NM_000143.4(FH):c.835G>A (p.Val279Ile)
NM_000143.4(FH):c.857G>A (p.Arg286Lys)
NM_000143.4(FH):c.866T>C (p.Phe289Ser)
NM_000143.4(FH):c.86G>T (p.Gly29Val)
NM_000143.4(FH):c.871G>A (p.Glu291Lys)
NM_000143.4(FH):c.872A>C (p.Glu291Ala)
NM_000143.4(FH):c.874A>C (p.Lys292Gln) rs771087739
NM_000143.4(FH):c.874A>G (p.Lys292Glu)
NM_000143.4(FH):c.880G>A (p.Ala294Thr) rs1659920259
NM_000143.4(FH):c.892G>T (p.Ala298Ser)
NM_000143.4(FH):c.893C>G (p.Ala298Gly) rs1573881563
NM_000143.4(FH):c.898C>G (p.Leu300Val)
NM_000143.4(FH):c.89G>A (p.Gly30Asp)
NM_000143.4(FH):c.8G>C (p.Arg3Pro) rs1573890051
NM_000143.4(FH):c.902C>G (p.Thr301Arg)
NM_000143.4(FH):c.904+2dup rs1573881536
NM_000143.4(FH):c.904+4A>C rs1573881535
NM_000143.4(FH):c.904G>A (p.Gly302Ser) rs200412958
NM_000143.4(FH):c.904G>C (p.Gly302Arg)
NM_000143.4(FH):c.905-5T>G rs886046318
NM_000143.4(FH):c.907T>A (p.Leu303Met)
NM_000143.4(FH):c.911C>G (p.Pro304Arg) rs200491078
NM_000143.4(FH):c.91G>A (p.Ala31Thr)
NM_000143.4(FH):c.92C>T (p.Ala31Val) rs876659347
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.94G>T (p.Ala32Ser) rs1371664717
NM_000143.4(FH):c.953A>G (p.His318Arg)
NM_000143.4(FH):c.958G>A (p.Ala320Thr)
NM_000143.4(FH):c.958G>T (p.Ala320Ser) rs766441385
NM_000143.4(FH):c.973A>G (p.Ser325Gly)
NM_000143.4(FH):c.973A>T (p.Ser325Cys) rs201124581
NM_000143.4(FH):c.979G>A (p.Ala327Thr) rs1333344957
NM_000143.4(FH):c.980C>T (p.Ala327Val) rs1659854224
NM_000143.4(FH):c.982A>C (p.Met328Leu)
NM_000143.4(FH):c.984G>A (p.Met328Ile)
NM_000143.4(FH):c.988A>G (p.Thr330Ala) rs776313200
NM_000143.4(FH):c.991A>G (p.Thr331Ala) rs1459131048

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.