ClinVar Miner

List of variants in gene FH reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 652
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1237-13C>T rs752468689 0.07865
NM_000143.4(FH):c.132+71C>A rs111416913 0.02084
NM_000143.4(FH):c.556-281A>T rs116996841 0.01939
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.1108+261C>T rs4659606 0.00899
NM_000143.3(FH):c.-116G>A rs529496738 0.00597
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NC_000001.11:g.241497425T>C rs184475958 0.00595
NC_000001.11:g.241497360C>T rs74674708 0.00555
NM_000143.4(FH):c.1391-158A>T rs116598415 0.00486
NM_000143.4(FH):c.1236+292T>C rs150089431 0.00485
NM_000143.4(FH):c.379-214A>G rs137857651 0.00412
NM_000143.4(FH):c.1391-285A>G rs11809211 0.00397
NM_000143.4(FH):c.739-240G>A rs191906371 0.00321
NM_000143.4(FH):c.267+241C>T rs111470473 0.00279
NM_000143.4(FH):c.555+206A>G rs778970769 0.00211
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_000143.4(FH):c.905-39A>G rs200809528 0.00139
NM_000143.4(FH):c.1237-18T>A rs202206776 0.00128
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000143.4(FH):c.556-28T>C rs199773673 0.00099
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.306G>A (p.Ala102=) rs142283468 0.00032
NM_000143.4(FH):c.1391-40C>G rs200343739 0.00025
NM_000143.4(FH):c.4T>C (p.Tyr2His) rs112335468 0.00023
NM_000143.4(FH):c.50C>T (p.Ala17Val) rs111548093 0.00023
NM_000143.4(FH):c.1237-7C>T rs376260223 0.00022
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.122C>T (p.Ala41Val) rs201486221 0.00014
NM_000143.4(FH):c.379-49G>A rs201168370 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.132+20C>T rs768086355 0.00011
NM_000143.4(FH):c.6C>T (p.Tyr2=) rs199971078 0.00011
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.-10C>T rs998842505 0.00006
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.35G>T (p.Arg12Leu) rs367826177 0.00006
NM_000143.4(FH):c.552C>T (p.Ser184=) rs377660762 0.00006
NM_000143.4(FH):c.759A>G (p.Gln253=) rs147518314 0.00006
NM_000143.4(FH):c.957C>T (p.Asp319=) rs146751488 0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000143.4(FH):c.1314C>T (p.Ile438=) rs140873869 0.00005
NM_000143.4(FH):c.399T>C (p.Asn133=) rs376056309 0.00005
NM_000143.4(FH):c.63C>T (p.Ala21=) rs555404867 0.00005
NM_000143.4(FH):c.738+19T>C rs200220212 0.00005
NM_000143.4(FH):c.809A>G (p.Tyr270Cys) rs202060616 0.00005
NM_000143.4(FH):c.-3A>G rs202145941 0.00004
NM_000143.4(FH):c.1077T>A (p.Pro359=) rs750535216 0.00004
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.159A>G (p.Glu53=) rs202056884 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.435A>G (p.Ser145=) rs771373271 0.00004
NM_000143.4(FH):c.540T>C (p.His180=) rs766280573 0.00004
NM_000143.4(FH):c.556-4A>G rs370229813 0.00004
NM_000143.4(FH):c.1462G>A (p.Glu488Lys) rs201115573 0.00003
NM_000143.4(FH):c.207C>T (p.Gly69=) rs370392829 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.312T>C (p.Ala104=) rs1311053776 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.738+14A>G rs765629644 0.00003
NM_000143.4(FH):c.1138A>G (p.Met380Val) rs587778362 0.00002
NM_000143.4(FH):c.1283T>C (p.Val428Ala) rs201644919 0.00002
NM_000143.4(FH):c.132+19C>T rs1246848606 0.00002
NM_000143.4(FH):c.1428C>T (p.His476=) rs199887605 0.00002
NM_000143.4(FH):c.260G>A (p.Arg87His) rs200007371 0.00002
NM_000143.4(FH):c.270C>T (p.Thr90=) rs748852152 0.00002
NM_000143.4(FH):c.27G>A (p.Ala9=) rs983362570 0.00002
NM_000143.4(FH):c.358A>G (p.Ile120Val) rs199641124 0.00002
NM_000143.4(FH):c.555+11G>A rs768253079 0.00002
NM_000143.4(FH):c.702T>G (p.Thr234=) rs201083387 0.00002
NM_000143.4(FH):c.739-15T>G rs746109501 0.00002
NM_000143.4(FH):c.894T>C (p.Ala298=) rs372099505 0.00002
NM_000143.4(FH):c.904+13G>A rs572806212 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.*36A>G rs778697601 0.00001
NM_000143.4(FH):c.*5C>T rs777344869 0.00001
NM_000143.4(FH):c.1003C>T (p.Leu335=) rs1203364199 0.00001
NM_000143.4(FH):c.1041T>C (p.Ser347=) rs748482867 0.00001
NM_000143.4(FH):c.1056T>C (p.Gly352=) rs758440879 0.00001
NM_000143.4(FH):c.1092A>G (p.Gly364=) rs1361977903 0.00001
NM_000143.4(FH):c.1108+7A>G rs765397179 0.00001
NM_000143.4(FH):c.1109-7C>T rs1060504079 0.00001
NM_000143.4(FH):c.1167G>A (p.Gly389=) rs778969674 0.00001
NM_000143.4(FH):c.1173T>C (p.His391=) rs199638673 0.00001
NM_000143.4(FH):c.1188C>T (p.Val396=) rs1202174276 0.00001
NM_000143.4(FH):c.1227G>A (p.Lys409=) rs774493741 0.00001
NM_000143.4(FH):c.1237-9C>T rs767413280 0.00001
NM_000143.4(FH):c.1254C>T (p.His418=) rs1659748455 0.00001
NM_000143.4(FH):c.1293A>G (p.Thr431=) rs772800627 0.00001
NM_000143.4(FH):c.1308G>A (p.Val436=) rs201535626 0.00001
NM_000143.4(FH):c.132+13C>A rs1415517940 0.00001
NM_000143.4(FH):c.133-3T>C rs1553341989 0.00001
NM_000143.4(FH):c.1338C>T (p.Asn446=) rs113572177 0.00001
NM_000143.4(FH):c.1341G>A (p.Lys447=) rs748363858 0.00001
NM_000143.4(FH):c.1390+6T>A rs1338650106 0.00001
NM_000143.4(FH):c.1391-11T>C rs1659668830 0.00001
NM_000143.4(FH):c.1391-15T>C rs756731681 0.00001
NM_000143.4(FH):c.1391-4T>C rs760376174 0.00001
NM_000143.4(FH):c.1401G>A (p.Lys467=) rs1464951563 0.00001
NM_000143.4(FH):c.1433A>G (p.Asn478Ser) rs201886827 0.00001
NM_000143.4(FH):c.1434T>C (p.Asn478=) rs786202199 0.00001
NM_000143.4(FH):c.1443C>G (p.Thr481=) rs780200136 0.00001
NM_000143.4(FH):c.1461C>T (p.Ile487=) rs377091029 0.00001
NM_000143.4(FH):c.1470C>T (p.Gly490=) rs137969374 0.00001
NM_000143.4(FH):c.1479A>G (p.Thr493=) rs755633330 0.00001
NM_000143.4(FH):c.1494C>T (p.Asp498=) rs199949526 0.00001
NM_000143.4(FH):c.1503A>G (p.Val501=) rs1553340502 0.00001
NM_000143.4(FH):c.153G>A (p.Arg51=) rs757002779 0.00001
NM_000143.4(FH):c.178C>T (p.Leu60=) rs201146499 0.00001
NM_000143.4(FH):c.193G>A (p.Asp65Asn) rs769956664 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000143.4(FH):c.210C>T (p.Ala70=) rs1573888428 0.00001
NM_000143.4(FH):c.219G>A (p.Val73=) rs1213056420 0.00001
NM_000143.4(FH):c.237T>C (p.Phe79=) rs1443879574 0.00001
NM_000143.4(FH):c.267+8G>A rs750447887 0.00001
NM_000143.4(FH):c.26C>G (p.Ala9Gly) rs766915154 0.00001
NM_000143.4(FH):c.330T>C (p.Tyr110=) rs753962693 0.00001
NM_000143.4(FH):c.354T>C (p.Asn118=) rs1465574376 0.00001
NM_000143.4(FH):c.375T>C (p.Asp125=) rs964339220 0.00001
NM_000143.4(FH):c.378+10G>A rs771031726 0.00001
NM_000143.4(FH):c.378+15G>A rs748766342 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.414C>T (p.Leu138=) rs540968725 0.00001
NM_000143.4(FH):c.415G>A (p.Val139Met) rs200343823 0.00001
NM_000143.4(FH):c.42C>A (p.Leu14=) rs1660322230 0.00001
NM_000143.4(FH):c.444G>A (p.Gln148=) rs928534157 0.00001
NM_000143.4(FH):c.456T>C (p.Asn152=) rs876658403 0.00001
NM_000143.4(FH):c.468C>A (p.Val156=) rs202061330 0.00001
NM_000143.4(FH):c.48G>T (p.Arg16=) rs1468361143 0.00001
NM_000143.4(FH):c.49G>C (p.Ala17Pro) rs755886213 0.00001
NM_000143.4(FH):c.534C>T (p.Asn178=) rs375878939 0.00001
NM_000143.4(FH):c.555+17T>C rs201109559 0.00001
NM_000143.4(FH):c.556-12A>C rs1282569432 0.00001
NM_000143.4(FH):c.556-5A>G rs1060500892 0.00001
NM_000143.4(FH):c.5A>G (p.Tyr2Cys) rs1553342167 0.00001
NM_000143.4(FH):c.615A>G (p.Glu205=) rs1474356587 0.00001
NM_000143.4(FH):c.639G>A (p.Lys213=) rs377222193 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.684C>T (p.Ile228=) rs1384151924 0.00001
NM_000143.4(FH):c.720T>C (p.Val240=) rs1228594697 0.00001
NM_000143.4(FH):c.765A>G (p.Val255=) rs200965107 0.00001
NM_000143.4(FH):c.771T>C (p.Tyr257=) rs199909758 0.00001
NM_000143.4(FH):c.775A>G (p.Met259Val) rs1343775223 0.00001
NM_000143.4(FH):c.792T>C (p.Ala264=) rs368234566 0.00001
NM_000143.4(FH):c.816C>T (p.Leu272=) rs775368701 0.00001
NM_000143.4(FH):c.81C>T (p.Gly27=) rs1206696042 0.00001
NM_000143.4(FH):c.853A>G (p.Thr285Ala) rs200791185 0.00001
NM_000143.4(FH):c.904+12C>T rs781047980 0.00001
NM_000143.4(FH):c.904+8A>G rs1311166590 0.00001
NM_000143.4(FH):c.90C>A (p.Gly30=) rs1262096783 0.00001
NM_000143.4(FH):c.90C>T (p.Gly30=) rs1262096783 0.00001
NM_000143.4(FH):c.96C>A (p.Ala32=) rs750087000 0.00001
NM_000143.4(FH):c.987C>T (p.Asn329=) rs1049719 0.00001
NM_000143.4(FH):c.98T>G (p.Val33Gly) rs1319755767 0.00001
NM_000143.4(FH):c.993T>C (p.Thr331=) rs757921798 0.00001
NM_000143.4(FH):c.9A>C (p.Arg3=) rs941921568 0.00001
NM_000143.4(FH):c.*14A>G
NM_000143.4(FH):c.*2T>C
NM_000143.4(FH):c.-17C>T rs202081538
NM_000143.4(FH):c.-31C>T
NM_000143.4(FH):c.1002T>C (p.Ser334=) rs2147916185
NM_000143.4(FH):c.1013T>C (p.Ile338Thr) rs201975537
NM_000143.4(FH):c.1020T>C (p.Asn340=)
NM_000143.4(FH):c.1023T>C (p.Asp341=) rs863223973
NM_000143.4(FH):c.1029A>T (p.Arg343=)
NM_000143.4(FH):c.102C>A (p.Pro34=)
NM_000143.4(FH):c.1050G>C (p.Arg350=)
NM_000143.4(FH):c.105G>C (p.Ser35=) rs181655698
NM_000143.4(FH):c.105G>T (p.Ser35=)
NM_000143.4(FH):c.1066T>C (p.Leu356=) rs1157405003
NM_000143.4(FH):c.1068G>A (p.Leu356=)
NM_000143.4(FH):c.1071C>A (p.Ile357=) rs1391140770
NM_000143.4(FH):c.1071C>T (p.Ile357=) rs1391140770
NM_000143.4(FH):c.1072T>C (p.Leu358=) rs918902822
NM_000143.4(FH):c.1074G>A (p.Leu358=)
NM_000143.4(FH):c.1086A>G (p.Glu362=) rs1553341008
NM_000143.4(FH):c.1095C>T (p.Ser365=)
NM_000143.4(FH):c.1098T>C (p.Ser366=) rs2147916028
NM_000143.4(FH):c.10G>A (p.Ala4Thr) rs1573890047
NM_000143.4(FH):c.1108+10T>A rs201513242
NM_000143.4(FH):c.1108+10T>C rs201513242
NM_000143.4(FH):c.1108+16G>T
NM_000143.4(FH):c.1108+18A>G rs2147915986
NM_000143.4(FH):c.1108+19A>G
NM_000143.4(FH):c.1108+8C>A
NM_000143.4(FH):c.1108+9A>T
NM_000143.4(FH):c.1109-12G>A
NM_000143.4(FH):c.1109-15G>A rs2147915063
NM_000143.4(FH):c.1109-15G>T rs2147915063
NM_000143.4(FH):c.1109-19A>C
NM_000143.4(FH):c.1109-19A>G rs2147915066
NM_000143.4(FH):c.1109-20C>T rs2147915068
NM_000143.4(FH):c.1109-4G>A rs959933221
NM_000143.4(FH):c.1109-4G>C
NM_000143.4(FH):c.1110C>T (p.Gly370=)
NM_000143.4(FH):c.1119C>T (p.Asn373=) rs542014575
NM_000143.4(FH):c.1122T>C (p.Pro374=)
NM_000143.4(FH):c.1128G>A (p.Gln376=)
NM_000143.4(FH):c.1134A>G (p.Glu378=)
NM_000143.4(FH):c.1137A>G (p.Ala379=)
NM_000143.4(FH):c.1149T>C (p.Val383=)
NM_000143.4(FH):c.1149T>G (p.Val383=) rs2147914979
NM_000143.4(FH):c.114T>C (p.Pro38=) rs2147926861
NM_000143.4(FH):c.1152A>C (p.Ala384=) rs2147914968
NM_000143.4(FH):c.1155C>T (p.Ala385=)
NM_000143.4(FH):c.1161C>T (p.Val387=)
NM_000143.4(FH):c.1176T>C (p.Val392=)
NM_000143.4(FH):c.1179T>C (p.Ala393=)
NM_000143.4(FH):c.117G>A (p.Pro39=)
NM_000143.4(FH):c.117G>C (p.Pro39=)
NM_000143.4(FH):c.117G>T (p.Pro39=) rs1291665514
NM_000143.4(FH):c.1194C>A (p.Gly398=) rs1659805814
NM_000143.4(FH):c.1194C>T (p.Gly398=) rs1659805814
NM_000143.4(FH):c.1197C>T (p.Ser399=) rs1659805592
NM_000143.4(FH):c.1200T>C (p.Asn400=) rs1659805291
NM_000143.4(FH):c.1203A>G (p.Gly401=)
NM_000143.4(FH):c.120C>T (p.Asn40=) rs876658186
NM_000143.4(FH):c.1212G>A (p.Glu404=) rs752558644
NM_000143.4(FH):c.1224C>T (p.Phe408=)
NM_000143.4(FH):c.1230A>G (p.Pro410=)
NM_000143.4(FH):c.1236+14C>A rs149241949
NM_000143.4(FH):c.1236+15T>C
NM_000143.4(FH):c.1236+16G>C rs1424755855
NM_000143.4(FH):c.1236+16G>T
NM_000143.4(FH):c.1236+19T>G
NM_000143.4(FH):c.1236+346_1236+355del rs143840817
NM_000143.4(FH):c.1236+8T>G
NM_000143.4(FH):c.1237-10T>C rs2147913445
NM_000143.4(FH):c.1237-10_1237-9dup rs1553340717
NM_000143.4(FH):c.1237-12_1237-11del
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCA rs1553340726
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCA
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCTCTCA rs1553340727
NM_000143.4(FH):c.1237-13_1237-12insTT rs1553340725
NM_000143.4(FH):c.1237-14_1237-5del rs759012809
NM_000143.4(FH):c.1237-14_1237-9del
NM_000143.4(FH):c.1237-14_1237-9dup rs779985493
NM_000143.4(FH):c.1237-15CTCA[2] rs750898743
NM_000143.4(FH):c.1237-15CTCA[4] rs750898743
NM_000143.4(FH):c.1237-16T>A
NM_000143.4(FH):c.1237-16_1237-9dup rs1553340718
NM_000143.4(FH):c.1237-4A>C rs1659749175
NM_000143.4(FH):c.1237-4A>G rs1659749175
NM_000143.4(FH):c.1237-50TC[14]
NM_000143.4(FH):c.1237-50TC[15] rs144131869
NM_000143.4(FH):c.1237-50TC[16] rs144131869
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[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.1237-50TC[26] rs144131869
NM_000143.4(FH):c.1237-50TC[27] rs144131869
NM_000143.4(FH):c.1237-50TC[28] rs144131869
NM_000143.4(FH):c.1237-50TC[29] rs144131869
NM_000143.4(FH):c.1237-5C>G rs200926050
NM_000143.4(FH):c.1237-5C>T rs200926050
NM_000143.4(FH):c.1237-9_1237-8insCTCT rs1553340717
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT rs1553340717
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCT
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCT rs1553340717
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCT rs1553340717
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCTCT rs1553340717
NM_000143.4(FH):c.123G>A (p.Ala41=) rs1660317620
NM_000143.4(FH):c.123G>C (p.Ala41=) rs1660317620
NM_000143.4(FH):c.123G>T (p.Ala41=)
NM_000143.4(FH):c.1248G>A (p.Val416=) rs1659748690
NM_000143.4(FH):c.1249T>C (p.Leu417=) rs2147913360
NM_000143.4(FH):c.1257A>C (p.Ser419=)
NM_000143.4(FH):c.1266G>A (p.Leu422=)
NM_000143.4(FH):c.1269G>A (p.Leu423=) rs2147913292
NM_000143.4(FH):c.1272G>A (p.Gly424=)
NM_000143.4(FH):c.1278T>A (p.Ala426=)
NM_000143.4(FH):c.1284T>C (p.Val428=)
NM_000143.4(FH):c.1287C>A (p.Ser429=)
NM_000143.4(FH):c.1287C>T (p.Ser429=) rs2147913245
NM_000143.4(FH):c.12A>T (p.Ala4=) rs201277370
NM_000143.4(FH):c.1305G>A (p.Val435=) rs772415507
NM_000143.4(FH):c.1305G>T (p.Val435=) rs772415507
NM_000143.4(FH):c.132+10G>T
NM_000143.4(FH):c.132+12C>T
NM_000143.4(FH):c.132+14G>A
NM_000143.4(FH):c.132+15C>T
NM_000143.4(FH):c.132+16C>T
NM_000143.4(FH):c.132+35A>G rs1660315752
NM_000143.4(FH):c.132+7G>A rs1006041574
NM_000143.4(FH):c.1323T>C (p.Asn441=)
NM_000143.4(FH):c.1326A>C (p.Thr442=)
NM_000143.4(FH):c.1326A>G (p.Thr442=) rs2147913140
NM_000143.4(FH):c.1326A>T (p.Thr442=)
NM_000143.4(FH):c.1329A>G (p.Glu443=)
NM_000143.4(FH):c.133-10T>C rs1660247033
NM_000143.4(FH):c.133-11C>T
NM_000143.4(FH):c.133-14A>C
NM_000143.4(FH):c.133-15T>C
NM_000143.4(FH):c.133-16G>A
NM_000143.4(FH):c.133-5T>C
NM_000143.4(FH):c.133-7T>C
NM_000143.4(FH):c.133-8G>C rs2147925319
NM_000143.4(FH):c.1330A>C (p.Arg444=) rs749266351
NM_000143.4(FH):c.1342C>T (p.Leu448=) rs2147913090
NM_000143.4(FH):c.1356T>C (p.Ser452=)
NM_000143.4(FH):c.1357C>T (p.Leu453=)
NM_000143.4(FH):c.1359A>G (p.Leu453=) rs2147913040
NM_000143.4(FH):c.1368G>A (p.Val456=)
NM_000143.4(FH):c.1371A>G (p.Thr457=)
NM_000143.4(FH):c.1380T>C (p.Asn460=)
NM_000143.4(FH):c.1386T>C (p.His462=)
NM_000143.4(FH):c.138C>T (p.Ser46=)
NM_000143.4(FH):c.1390+17T>C
NM_000143.4(FH):c.1390+50C>T
NM_000143.4(FH):c.1390+5G>A rs1352808353
NM_000143.4(FH):c.1390+9T>A
NM_000143.4(FH):c.1390+9T>C
NM_000143.4(FH):c.1391-13A>T
NM_000143.4(FH):c.1391-13_1391-11del
NM_000143.4(FH):c.1391-17T>A
NM_000143.4(FH):c.1391-17T>G
NM_000143.4(FH):c.1391-18T>G
NM_000143.4(FH):c.1391-19C>A rs750363222
NM_000143.4(FH):c.1391-19C>G
NM_000143.4(FH):c.1391-9T>G rs2147911387
NM_000143.4(FH):c.1392G>A (p.Gly464=) rs2147911364
NM_000143.4(FH):c.1398C>T (p.Asp466=) rs1558395525
NM_000143.4(FH):c.1404A>C (p.Ala468=)
NM_000143.4(FH):c.1410G>A (p.Lys470=) rs1343209025
NM_000143.4(FH):c.1413T>C (p.Ile471=)
NM_000143.4(FH):c.1415C>T (p.Ala472Val) rs765643179
NM_000143.4(FH):c.1416T>A (p.Ala472=)
NM_000143.4(FH):c.1419G>A (p.Lys473=)
NM_000143.4(FH):c.141A>G (p.Gln47=) rs1573888563
NM_000143.4(FH):c.1422A>G (p.Thr474=) rs1573876607
NM_000143.4(FH):c.1422A>T (p.Thr474=) rs1573876607
NM_000143.4(FH):c.1425A>G (p.Ala475=)
NM_000143.4(FH):c.1425A>T (p.Ala475=)
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1440A>T (p.Ser480=)
NM_000143.4(FH):c.1443C>T (p.Thr481=) rs780200136
NM_000143.4(FH):c.1455T>C (p.Thr485=) rs2147911274
NM_000143.4(FH):c.1458T>C (p.Ala486=)
NM_000143.4(FH):c.1461C>A (p.Ile487=) rs377091029
NM_000143.4(FH):c.1464A>G (p.Glu488=)
NM_000143.4(FH):c.1467T>C (p.Leu489=) rs1573876542
NM_000143.4(FH):c.1467T>G (p.Leu489=)
NM_000143.4(FH):c.1470C>G (p.Gly490=)
NM_000143.4(FH):c.1476C>G (p.Leu492=) rs1659663240
NM_000143.4(FH):c.1482A>C (p.Ala494=)
NM_000143.4(FH):c.1485G>A (p.Glu495=)
NM_000143.4(FH):c.1491T>C (p.Phe497=)
NM_000143.4(FH):c.1506A>G (p.Lys502=) rs1573876491
NM_000143.4(FH):c.150C>T (p.Phe50=) rs2147925282
NM_000143.4(FH):c.1512G>A (p.Lys504=)
NM_000143.4(FH):c.151C>A (p.Arg51=) rs778678782
NM_000143.4(FH):c.1521G>A (p.Leu507=) rs2147911186
NM_000143.4(FH):c.1524T>G (p.Gly508=)
NM_000143.4(FH):c.153G>C (p.Arg51=)
NM_000143.4(FH):c.15T>G (p.Leu5=) rs2147927079
NM_000143.4(FH):c.168C>T (p.Thr56=) rs574938106
NM_000143.4(FH):c.16C>T (p.Arg6Trp) rs1660324018
NM_000143.4(FH):c.171T>C (p.Phe57=) rs1573888522
NM_000143.4(FH):c.177A>G (p.Glu59=) rs2147925246
NM_000143.4(FH):c.180A>G (p.Leu60=) rs1573888502
NM_000143.4(FH):c.183G>A (p.Lys61=) rs766840026
NM_000143.4(FH):c.186G>A (p.Val62=)
NM_000143.4(FH):c.189A>C (p.Pro63=) rs375195780
NM_000143.4(FH):c.189A>G (p.Pro63=)
NM_000143.4(FH):c.18G>A (p.Arg6=)
NM_000143.4(FH):c.198G>A (p.Lys66=) rs556439883
NM_000143.4(FH):c.204T>C (p.Tyr68=) rs1060500883
NM_000143.4(FH):c.207C>G (p.Gly69=) rs370392829
NM_000143.4(FH):c.216C>T (p.Thr72=) rs1341995835
NM_000143.4(FH):c.219G>C (p.Val73=)
NM_000143.4(FH):c.21C>A (p.Leu7=)
NM_000143.4(FH):c.21C>G (p.Leu7=) rs1263147931
NM_000143.4(FH):c.222A>G (p.Arg74=)
NM_000143.4(FH):c.225T>C (p.Ser75=)
NM_000143.4(FH):c.228G>A (p.Thr76=) rs373586584
NM_000143.4(FH):c.228G>C (p.Thr76=) rs373586584
NM_000143.4(FH):c.228G>T (p.Thr76=) rs373586584
NM_000143.4(FH):c.240G>A (p.Lys80=) rs1573888362
NM_000143.4(FH):c.243T>A (p.Ile81=) rs2147925126
NM_000143.4(FH):c.249T>A (p.Gly83=) rs2147925115
NM_000143.4(FH):c.24C>T (p.Leu8=)
NM_000143.4(FH):c.252G>A (p.Val84=) rs2147925108
NM_000143.4(FH):c.255A>G (p.Thr85=) rs2147925102
NM_000143.4(FH):c.267+10A>G
NM_000143.4(FH):c.267+13dup
NM_000143.4(FH):c.267+14G>A
NM_000143.4(FH):c.267+7G>A rs1660239794
NM_000143.4(FH):c.267A>C (p.Pro89=) rs1060500897
NM_000143.4(FH):c.268-16T>G
NM_000143.4(FH):c.268-18T>A rs1430617071
NM_000143.4(FH):c.268-6T>A
NM_000143.4(FH):c.268-7_268-6del
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup) rs1395036789
NM_000143.4(FH):c.270C>A (p.Thr90=)
NM_000143.4(FH):c.270C>G (p.Thr90=) rs748852152
NM_000143.4(FH):c.273A>G (p.Pro91=)
NM_000143.4(FH):c.276T>C (p.Val92=)
NM_000143.4(FH):c.285T>C (p.Ala95=) rs973577283
NM_000143.4(FH):c.288T>C (p.Phe96=) rs747348623
NM_000143.4(FH):c.291C>T (p.Gly97=)
NM_000143.4(FH):c.300G>A (p.Lys100=)
NM_000143.4(FH):c.303A>C (p.Arg101=)
NM_000143.4(FH):c.309C>A (p.Ala103=) rs10926501
NM_000143.4(FH):c.30C>G (p.Arg10=)
NM_000143.4(FH):c.30C>T (p.Arg10=)
NM_000143.4(FH):c.312T>G (p.Ala104=)
NM_000143.4(FH):c.318A>G (p.Val106=) rs2147923011
NM_000143.4(FH):c.318A>T (p.Val106=)
NM_000143.4(FH):c.336T>C (p.Leu112=)
NM_000143.4(FH):c.33G>A (p.Ser11=) rs200542051
NM_000143.4(FH):c.33G>T (p.Ser11=) rs200542051
NM_000143.4(FH):c.345G>A (p.Lys115=)
NM_000143.4(FH):c.351T>G (p.Ala117=)
NM_000143.4(FH):c.357A>C (p.Ala119=) rs767209674
NM_000143.4(FH):c.357A>T (p.Ala119=)
NM_000143.4(FH):c.366G>A (p.Lys122=) rs1573886379
NM_000143.4(FH):c.36T>A (p.Arg12=) rs2147927029
NM_000143.4(FH):c.378+12T>C rs2147922909
NM_000143.4(FH):c.378+12del rs772858528
NM_000143.4(FH):c.378+14A>T
NM_000143.4(FH):c.378+16T>G
NM_000143.4(FH):c.378+17G>A rs1280427620
NM_000143.4(FH):c.378+19G>A
NM_000143.4(FH):c.378+6A>G rs1348359637
NM_000143.4(FH):c.378+7G>A rs1486097527
NM_000143.4(FH):c.378+8G>A rs1573886359
NM_000143.4(FH):c.378+8G>C rs1573886359
NM_000143.4(FH):c.379-12T>C
NM_000143.4(FH):c.379-13A>G
NM_000143.4(FH):c.379-16A>G
NM_000143.4(FH):c.379-16A>T rs2147922056
NM_000143.4(FH):c.379-17T>C
NM_000143.4(FH):c.379-19T>C
NM_000143.4(FH):c.379-4G>A rs1660104141
NM_000143.4(FH):c.379-4G>T
NM_000143.4(FH):c.384T>C (p.Ala128=)
NM_000143.4(FH):c.393A>G (p.Lys131=)
NM_000143.4(FH):c.39C>A (p.Pro13=) rs1060504077
NM_000143.4(FH):c.39C>G (p.Pro13=) rs1060504077
NM_000143.4(FH):c.402T>C (p.Asp134=)
NM_000143.4(FH):c.414C>G (p.Leu138=) rs540968725
NM_000143.4(FH):c.420A>G (p.Val140=) rs1180706892
NM_000143.4(FH):c.426G>A (p.Gln142=) rs1660100845
NM_000143.4(FH):c.429T>C (p.Thr143=)
NM_000143.4(FH):c.42C>G (p.Leu14=)
NM_000143.4(FH):c.42C>T (p.Leu14=) rs1660322230
NM_000143.4(FH):c.435A>T (p.Ser145=)
NM_000143.4(FH):c.450T>C (p.Asn150=)
NM_000143.4(FH):c.459A>G (p.Val153=) rs1260492902
NM_000143.4(FH):c.45G>C (p.Val15=)
NM_000143.4(FH):c.462T>C (p.Asn154=) rs2147921891
NM_000143.4(FH):c.477T>C (p.Asn159=) rs372913738
NM_000143.4(FH):c.480A>G (p.Arg160=) rs2147921868
NM_000143.4(FH):c.486T>C (p.Ile162=) rs1573885412
NM_000143.4(FH):c.493T>C (p.Leu165=)
NM_000143.4(FH):c.498A>G (p.Gly166=) rs2147921845
NM_000143.4(FH):c.501T>C (p.Gly167=)
NM_000143.4(FH):c.504A>G (p.Glu168=)
NM_000143.4(FH):c.507T>G (p.Leu169=)
NM_000143.4(FH):c.513C>T (p.Ser171=)
NM_000143.4(FH):c.51T>C (p.Ala17=)
NM_000143.4(FH):c.522T>C (p.Pro174=) rs1365119112
NM_000143.4(FH):c.525G>A (p.Val175=) rs1553341592
NM_000143.4(FH):c.531C>G (p.Pro177=) rs202056137
NM_000143.4(FH):c.543T>C (p.Val181=) rs2147921766
NM_000143.4(FH):c.546T>C (p.Asn182=)
NM_000143.4(FH):c.54A>T (p.Pro18=) rs1660321087
NM_000143.4(FH):c.555+10T>C
NM_000143.4(FH):c.555+14_555+16del
NM_000143.4(FH):c.555+19C>A
NM_000143.4(FH):c.555+20T>A
NM_000143.4(FH):c.555+20T>C rs200874899
NM_000143.4(FH):c.555+22dup rs569920379
NM_000143.4(FH):c.555+4A>G rs776240700
NM_000143.4(FH):c.555+7A>G
NM_000143.4(FH):c.555+8T>A
NM_000143.4(FH):c.555+9G>A
NM_000143.4(FH):c.555+9G>T rs2147921724
NM_000143.4(FH):c.555+9_555+10insA
NM_000143.4(FH):c.555+9del
NM_000143.4(FH):c.556-17T>C
NM_000143.4(FH):c.556-18T>C
NM_000143.4(FH):c.556-19T>G
NM_000143.4(FH):c.556-5A>C
NM_000143.4(FH):c.556-6C>G
NM_000143.4(FH):c.556-6C>T rs1278315587
NM_000143.4(FH):c.556-7C>T rs780483420
NM_000143.4(FH):c.556-9T>C
NM_000143.4(FH):c.558C>T (p.Ser186=) rs2147919721
NM_000143.4(FH):c.567T>C (p.Asp189=) rs2147919705
NM_000143.4(FH):c.576C>A (p.Pro192=) rs1413797947
NM_000143.4(FH):c.576C>G (p.Pro192=) rs1413797947
NM_000143.4(FH):c.576C>T (p.Pro192=)
NM_000143.4(FH):c.57C>G (p.Ala19=)
NM_000143.4(FH):c.57C>T (p.Ala19=) rs1469317078
NM_000143.4(FH):c.582A>C (p.Ala194=)
NM_000143.4(FH):c.597T>C (p.Ala199=)
NM_000143.4(FH):c.600A>C (p.Ala200=) rs1490011492
NM_000143.4(FH):c.600A>G (p.Ala200=) rs1490011492
NM_000143.4(FH):c.603A>C (p.Ile201=)
NM_000143.4(FH):c.609T>C (p.Val203=)
NM_000143.4(FH):c.609T>G (p.Val203=) rs2147919632
NM_000143.4(FH):c.60A>G (p.Ala20=)
NM_000143.4(FH):c.618A>C (p.Val206=) rs2147919618
NM_000143.4(FH):c.618A>G (p.Val206=)
NM_000143.4(FH):c.619C>T (p.Leu207=) rs1659995971
NM_000143.4(FH):c.621G>A (p.Leu207=) rs1210947784
NM_000143.4(FH):c.627A>G (p.Pro209=)
NM_000143.4(FH):c.633A>G (p.Leu211=) rs2147919592
NM_000143.4(FH):c.636G>A (p.Gln212=) rs1270956851
NM_000143.4(FH):c.651T>C (p.Ala217=)
NM_000143.4(FH):c.654T>C (p.Leu218=)
NM_000143.4(FH):c.654T>G (p.Leu218=)
NM_000143.4(FH):c.669A>G (p.Lys223=) rs1573883183
NM_000143.4(FH):c.670G>A (p.Glu224Lys) rs1060500905
NM_000143.4(FH):c.675T>C (p.Phe225=)
NM_000143.4(FH):c.678A>C (p.Ala226=)
NM_000143.4(FH):c.678A>G (p.Ala226=) rs757078832
NM_000143.4(FH):c.687C>T (p.Ile229=)
NM_000143.4(FH):c.702T>A (p.Thr234=)
NM_000143.4(FH):c.705T>C (p.His235=) rs919993170
NM_000143.4(FH):c.708T>C (p.Thr236=)
NM_000143.4(FH):c.708T>G (p.Thr236=)
NM_000143.4(FH):c.711G>A (p.Gln237=) rs1659989732
NM_000143.4(FH):c.714T>C (p.Asp238=) rs2147919423
NM_000143.4(FH):c.723A>G (p.Pro241=) rs2147919405
NM_000143.4(FH):c.729T>C (p.Thr243=) rs1573883071
NM_000143.4(FH):c.72G>C (p.Ser24=)
NM_000143.4(FH):c.72G>T (p.Ser24=)
NM_000143.4(FH):c.732T>C (p.Leu244=) rs1277279137
NM_000143.4(FH):c.735G>C (p.Gly245=) rs1448288377
NM_000143.4(FH):c.738+11T>C
NM_000143.4(FH):c.738+13del
NM_000143.4(FH):c.738+15C>T
NM_000143.4(FH):c.738+17A>G rs2147919358
NM_000143.4(FH):c.738+20T>C
NM_000143.4(FH):c.738+7G>C
NM_000143.4(FH):c.738+9G>A rs1443246780
NM_000143.4(FH):c.738+9G>T rs1443246780
NM_000143.4(FH):c.739-10T>G rs201971572
NM_000143.4(FH):c.739-12T>C
NM_000143.4(FH):c.739-12T>G rs2147917795
NM_000143.4(FH):c.739-13_739-11del rs771766378
NM_000143.4(FH):c.739-17TTTTC[2] rs745617145
NM_000143.4(FH):c.739-200G>A rs137943762
NM_000143.4(FH):c.739-5T>A
NM_000143.4(FH):c.739-9T>C rs779074287
NM_000143.4(FH):c.741A>G (p.Glu247=) rs2147917775
NM_000143.4(FH):c.744T>C (p.Phe248=) rs200094834
NM_000143.4(FH):c.750T>C (p.Gly250=)
NM_000143.4(FH):c.75T>G (p.Ala25=)
NM_000143.4(FH):c.767A>C (p.Lys256Thr) rs978988174
NM_000143.4(FH):c.768A>G (p.Lys256=)
NM_000143.4(FH):c.774A>G (p.Ala258=) rs2147917743
NM_000143.4(FH):c.774A>T (p.Ala258=) rs2147917743
NM_000143.4(FH):c.780A>C (p.Thr260=)
NM_000143.4(FH):c.783A>G (p.Arg261=) rs1573881721
NM_000143.4(FH):c.78C>T (p.Pro26=) rs1029677665
NM_000143.4(FH):c.795C>T (p.Ala265=) rs2147917699
NM_000143.4(FH):c.7C>A (p.Arg3=)
NM_000143.4(FH):c.801A>G (p.Pro267=)
NM_000143.4(FH):c.807C>A (p.Ile269=) rs2147917660
NM_000143.4(FH):c.807C>T (p.Ile269=) rs2147917660
NM_000143.4(FH):c.810T>C (p.Tyr270=)
NM_000143.4(FH):c.816C>G (p.Leu272=)
NM_000143.4(FH):c.81C>G (p.Gly27=)
NM_000143.4(FH):c.825A>T (p.Gly275=)
NM_000143.4(FH):c.82T>C (p.Leu28=)
NM_000143.4(FH):c.831T>C (p.Thr277=) rs113349873
NM_000143.4(FH):c.834T>C (p.Ala278=)
NM_000143.4(FH):c.846T>A (p.Gly282=)
NM_000143.4(FH):c.846T>C (p.Gly282=) rs1474982294
NM_000143.4(FH):c.852T>C (p.Asn284=) rs759596203
NM_000143.4(FH):c.855T>C (p.Thr285=) rs1573881600
NM_000143.4(FH):c.861T>A (p.Ile287=)
NM_000143.4(FH):c.861T>C (p.Ile287=)
NM_000143.4(FH):c.864C>T (p.Gly288=)
NM_000143.4(FH):c.870A>G (p.Ala290=)
NM_000143.4(FH):c.885A>G (p.Ala295=) rs199635833
NM_000143.4(FH):c.897A>G (p.Ala299=) rs1553341151
NM_000143.4(FH):c.900T>A (p.Leu300=) rs1659919363
NM_000143.4(FH):c.900T>C (p.Leu300=) rs1659919363
NM_000143.4(FH):c.903A>C (p.Thr301=) rs1659918712
NM_000143.4(FH):c.904+11A>C rs2147917478
NM_000143.4(FH):c.904+11A>G
NM_000143.4(FH):c.904+12C>A rs781047980
NM_000143.4(FH):c.904+14T>C
NM_000143.4(FH):c.904+17A>C
NM_000143.4(FH):c.904+18T>A
NM_000143.4(FH):c.904+20A>G
NM_000143.4(FH):c.904+21T>A
NM_000143.4(FH):c.904+9T>A rs1467613193
NM_000143.4(FH):c.904+9T>G rs1467613193
NM_000143.4(FH):c.905-10T>G rs1060504080
NM_000143.4(FH):c.905-12T>A
NM_000143.4(FH):c.905-17A>G
NM_000143.4(FH):c.905-19A>T
NM_000143.4(FH):c.905-20G>A
NM_000143.4(FH):c.905-3T>C rs1573880626
NM_000143.4(FH):c.905-5T>A rs886046318
NM_000143.4(FH):c.905-5T>C rs886046318
NM_000143.4(FH):c.905-5_905-4insAAAA
NM_000143.4(FH):c.905-6C>T rs2147916417
NM_000143.4(FH):c.906C>A (p.Gly302=)
NM_000143.4(FH):c.906C>T (p.Gly302=) rs1573880617
NM_000143.4(FH):c.907T>C (p.Leu303=)
NM_000143.4(FH):c.909G>A (p.Leu303=)
NM_000143.4(FH):c.912T>C (p.Pro304=) rs1573880603
NM_000143.4(FH):c.912T>G (p.Pro304=) rs1573880603
NM_000143.4(FH):c.921T>C (p.Thr307=)
NM_000143.4(FH):c.921T>G (p.Thr307=)
NM_000143.4(FH):c.924T>G (p.Ala308=) rs2147916343
NM_000143.4(FH):c.927G>C (p.Pro309=)
NM_000143.4(FH):c.930T>C (p.Asn310=)
NM_000143.4(FH):c.936T>C (p.Phe312=)
NM_000143.4(FH):c.93G>T (p.Ala31=)
NM_000143.4(FH):c.942T>C (p.Ala314=)
NM_000143.4(FH):c.943C>T (p.Leu315=) rs1573880536
NM_000143.4(FH):c.951T>C (p.Ala317=) rs1659855471
NM_000143.4(FH):c.960T>G (p.Ala320=)
NM_000143.4(FH):c.96C>G (p.Ala32=) rs750087000
NM_000143.4(FH):c.96C>T (p.Ala32=)
NM_000143.4(FH):c.981C>T (p.Ala327=) rs1060504078
NM_000143.4(FH):c.990T>G (p.Thr330=) rs1659853439
NM_000143.4(FH):c.996C>G (p.Ala332=)
NM_000143.4(FH):c.996C>T (p.Ala332=)
NM_000143.4(FH):c.999C>T (p.Cys333=) rs1553341031
NM_000143.4(FH):c.99G>A (p.Val33=)
NM_000143.4(FH):c.9A>G (p.Arg3=)

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