ClinVar Miner

List of variants in gene MEFV reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 476
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.*267G>A rs2741918 0.58813
NM_000243.3(MEFV):c.*836_*837insACT rs34895148 0.58327
NM_000243.3(MEFV):c.*245G>A rs2741919 0.58215
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.*133G>A rs2075849 0.01591
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_000243.3(MEFV):c.1356+31G>T rs142775938 0.00459
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) rs104895100 0.00207
NM_000243.3(MEFV):c.1173T>C (p.Asp391=) rs146077729 0.00201
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) rs61754767 0.00121
NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln) rs145637617 0.00076
NM_000243.3(MEFV):c.277+6C>T rs7199464 0.00071
NM_000243.3(MEFV):c.932C>T (p.Ala311Val) rs74346519 0.00063
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro) rs139313647 0.00047
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_000243.3(MEFV):c.231C>A (p.Ile77=) rs139899201 0.00029
NM_000243.3(MEFV):c.1677C>T (p.Leu559=) rs144672997 0.00024
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val) rs104895151 0.00020
NM_000243.3(MEFV):c.1038C>G (p.Gly346=) rs141090517 0.00019
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp) rs752973530 0.00018
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000243.3(MEFV):c.1502G>A (p.Arg501His) rs104895196 0.00014
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn) rs764274816 0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn) rs756322372 0.00011
NM_000243.3(MEFV):c.1458C>T (p.Asp486=) rs147767925 0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) rs199937453 0.00011
NM_000243.3(MEFV):c.972C>T (p.Asp324=) rs140776637 0.00010
NM_000243.3(MEFV):c.198C>T (p.Ala66=) rs149380763 0.00009
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala) rs374412819 0.00009
NM_000243.3(MEFV):c.765A>G (p.Ala255=) rs771714168 0.00008
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp) rs575678784 0.00007
NM_000243.3(MEFV):c.663G>C (p.Pro221=) rs104895162 0.00007
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys) rs141288548 0.00006
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile) rs140462252 0.00006
NM_000243.3(MEFV):c.1610+8G>A rs765410591 0.00006
NM_000243.3(MEFV):c.1674A>G (p.Gln558=) rs747471997 0.00006
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter) rs747515115 0.00006
NM_000243.3(MEFV):c.549G>A (p.Pro183=) rs587781035 0.00006
NM_000243.3(MEFV):c.657C>T (p.Gly219=) rs104895182 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala) rs778686119 0.00005
NM_000243.3(MEFV):c.2337G>C (p.Gly779=) rs104895153 0.00005
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_000243.3(MEFV):c.96T>C (p.Ser32=) rs761135823 0.00005
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp) rs104895116 0.00004
NM_000243.3(MEFV):c.1130G>A (p.Arg377His) rs144998416 0.00004
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala) rs749651486 0.00004
NM_000243.3(MEFV):c.150G>A (p.Pro50=) rs376952748 0.00004
NM_000243.3(MEFV):c.1527C>T (p.Leu509=) rs571832030 0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 0.00004
NM_000243.3(MEFV):c.1587+7G>A rs375555497 0.00004
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter) rs768473920 0.00004
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln) rs138498376 0.00004
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys) rs151306047 0.00004
NM_000243.3(MEFV):c.611G>A (p.Arg204His) rs775663363 0.00004
NM_000243.3(MEFV):c.759G>A (p.Ala253=) rs936508032 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000243.3(MEFV):c.941G>A (p.Arg314His) rs104895204 0.00004
NM_000243.3(MEFV):c.948C>T (p.His316=) rs150252937 0.00004
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser) rs146862274 0.00004
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu) rs377754606 0.00003
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr) rs779558690 0.00003
NM_000243.3(MEFV):c.1533G>A (p.Ala511=) rs771061550 0.00003
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000243.3(MEFV):c.2229C>T (p.Phe743=) rs104895152 0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val) rs104895194 0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=) rs368333568 0.00003
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly) rs797001768 0.00003
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp) rs759997694 0.00003
NM_000243.3(MEFV):c.513G>T (p.Ala171=) rs745622682 0.00003
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu) rs104895134 0.00003
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly) rs745839954 0.00003
NM_000243.3(MEFV):c.99G>A (p.Val33=) rs767848974 0.00003
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln) rs763015849 0.00002
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr) rs190405488 0.00002
NM_000243.3(MEFV):c.1089C>T (p.Ser363=) rs104895170 0.00002
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val) rs1057519328 0.00002
NM_000243.3(MEFV):c.1119A>G (p.Pro373=) rs1256271984 0.00002
NM_000243.3(MEFV):c.1261-4C>A rs759448762 0.00002
NM_000243.3(MEFV):c.1407G>A (p.Val469=) rs757268432 0.00002
NM_000243.3(MEFV):c.192G>A (p.Glu64=) rs547393490 0.00002
NM_000243.3(MEFV):c.199G>A (p.Val67Met) rs1422054832 0.00002
NM_000243.3(MEFV):c.239G>A (p.Arg80His) rs201075710 0.00002
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr) rs104895124 0.00002
NM_000243.3(MEFV):c.277+20C>T rs974303326 0.00002
NM_000243.3(MEFV):c.277+7G>A rs1225720996 0.00002
NM_000243.3(MEFV):c.278-15T>C rs774149669 0.00002
NM_000243.3(MEFV):c.318G>A (p.Ala106=) rs777765016 0.00002
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg) rs201766654 0.00002
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr) rs773320625 0.00002
NM_000243.3(MEFV):c.840G>A (p.Arg280=) rs748624682 0.00002
NM_000243.3(MEFV):c.927G>A (p.Thr309=) rs145872265 0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) rs104895110 0.00002
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser) rs774397209 0.00001
NM_000243.3(MEFV):c.1056C>T (p.Cys352=) rs104895164 0.00001
NM_000243.3(MEFV):c.1059C>T (p.Pro353=) rs988793460 0.00001
NM_000243.3(MEFV):c.1062G>C (p.Arg354=) rs1431507330 0.00001
NM_000243.3(MEFV):c.108G>A (p.Glu36=) rs759877779 0.00001
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu) rs104895214 0.00001
NM_000243.3(MEFV):c.1188C>T (p.Leu396=) rs748967789 0.00001
NM_000243.3(MEFV):c.120C>T (p.Ile40=) rs1454105754 0.00001
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp) rs758868622 0.00001
NM_000243.3(MEFV):c.1260+18G>C rs104895136 0.00001
NM_000243.3(MEFV):c.1261-13G>A rs778114467 0.00001
NM_000243.3(MEFV):c.1261-14T>C rs754322350 0.00001
NM_000243.3(MEFV):c.1356+11A>C rs548648384 0.00001
NM_000243.3(MEFV):c.1371G>A (p.Ala457=) rs761470030 0.00001
NM_000243.3(MEFV):c.1386G>A (p.Val462=) rs768816084 0.00001
NM_000243.3(MEFV):c.1401G>A (p.Glu467=) rs1398639205 0.00001
NM_000243.3(MEFV):c.1446C>G (p.Ala482=) rs776820718 0.00001
NM_000243.3(MEFV):c.1455G>A (p.Glu485=) rs958054431 0.00001
NM_000243.3(MEFV):c.1485G>A (p.Arg495=) rs1012455878 0.00001
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu) rs144716190 0.00001
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr) rs150730718 0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) rs550970304 0.00001
NM_000243.3(MEFV):c.1650T>G (p.Pro550=) rs1958910774 0.00001
NM_000243.3(MEFV):c.174C>A (p.Val58=) rs1217681506 0.00001
NM_000243.3(MEFV):c.186G>A (p.Gly62=) rs567615955 0.00001
NM_000243.3(MEFV):c.2166G>A (p.Val722=) rs762351424 0.00001
NM_000243.3(MEFV):c.2169C>T (p.Asp723=) rs104895117 0.00001
NM_000243.3(MEFV):c.2202G>A (p.Val734=) rs956722067 0.00001
NM_000243.3(MEFV):c.2205A>G (p.Thr735=) rs375450800 0.00001
NM_000243.3(MEFV):c.2214C>T (p.Ser738=) rs1372111494 0.00001
NM_000243.3(MEFV):c.2259A>G (p.Gln753=) rs104895174 0.00001
NM_000243.3(MEFV):c.2265C>T (p.Ile755=) rs776137465 0.00001
NM_000243.3(MEFV):c.2310G>A (p.Leu770=) rs1488237213 0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val) rs104895163 0.00001
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser) rs145015653 0.00001
NM_000243.3(MEFV):c.240C>T (p.Arg80=) rs750467804 0.00001
NM_000243.3(MEFV):c.241C>T (p.Leu81=) rs1159691741 0.00001
NM_000243.3(MEFV):c.249C>T (p.Ala83=) rs141422964 0.00001
NM_000243.3(MEFV):c.277+11C>G rs543272545 0.00001
NM_000243.3(MEFV):c.278-12T>C rs1018265024 0.00001
NM_000243.3(MEFV):c.30G>A (p.Leu10=) rs553819712 0.00001
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala) rs756029520 0.00001
NM_000243.3(MEFV):c.328C>T (p.Leu110=) rs767274498 0.00001
NM_000243.3(MEFV):c.357G>A (p.Lys119=) rs1000657059 0.00001
NM_000243.3(MEFV):c.405C>T (p.Tyr135=) rs766323718 0.00001
NM_000243.3(MEFV):c.411C>T (p.Gly137=) rs1266277814 0.00001
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile) rs104895130 0.00001
NM_000243.3(MEFV):c.426G>C (p.Leu142=) rs1465332482 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.48G>A (p.Leu16=) rs777381107 0.00001
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln) rs1306636942 0.00001
NM_000243.3(MEFV):c.510C>T (p.Asp170=) rs1234279922 0.00001
NM_000243.3(MEFV):c.520A>G (p.Lys174Glu) rs777199024 0.00001
NM_000243.3(MEFV):c.524C>A (p.Pro175His) rs104895126 0.00001
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile) rs104895143 0.00001
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn) rs104895125 0.00001
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000243.3(MEFV):c.561C>T (p.Ser187=) rs910638883 0.00001
NM_000243.3(MEFV):c.566G>T (p.Gly189Val) rs923516953 0.00001
NM_000243.3(MEFV):c.588G>A (p.Gly196=) rs750968749 0.00001
NM_000243.3(MEFV):c.588G>C (p.Gly196=) rs750968749 0.00001
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro) rs1959084389 0.00001
NM_000243.3(MEFV):c.612C>T (p.Arg204=) rs1006819766 0.00001
NM_000243.3(MEFV):c.651G>C (p.Ala217=) rs886051971 0.00001
NM_000243.3(MEFV):c.66G>A (p.Glu22=) rs569040282 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg) rs754679070 0.00001
NM_000243.3(MEFV):c.726C>T (p.Ser242=) rs104895127 0.00001
NM_000243.3(MEFV):c.744T>C (p.Ser248=) rs750362154 0.00001
NM_000243.3(MEFV):c.747A>G (p.Thr249=) rs369527857 0.00001
NM_000243.3(MEFV):c.786T>C (p.Thr262=) rs575521131 0.00001
NM_000243.3(MEFV):c.789A>G (p.Leu263=) rs933330251 0.00001
NM_000243.3(MEFV):c.801A>G (p.Thr267=) rs141455838 0.00001
NM_000243.3(MEFV):c.807G>C (p.Ala269=) rs972290943 0.00001
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp) rs753623518 0.00001
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp) rs775020273 0.00001
NM_000243.3(MEFV):c.839G>A (p.Arg280Lys) rs1437746739 0.00001
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu) rs104895119 0.00001
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr) rs387907567 0.00001
NM_000243.3(MEFV):c.910+20A>G rs1389451136 0.00001
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys) rs757216434 0.00001
NM_000243.3(MEFV):c.*466_*468del rs61379197
NM_000243.3(MEFV):c.1005C>T (p.Pro335=) rs567739580
NM_000243.3(MEFV):c.1014T>G (p.Val338=)
NM_000243.3(MEFV):c.1017T>C (p.Ser339=)
NM_000243.3(MEFV):c.1026C>A (p.Pro342=)
NM_000243.3(MEFV):c.1026C>T (p.Pro342=)
NM_000243.3(MEFV):c.1032C>G (p.Ala344=) rs2141671903
NM_000243.3(MEFV):c.1038C>A (p.Gly346=) rs141090517
NM_000243.3(MEFV):c.1041C>T (p.Ser347=)
NM_000243.3(MEFV):c.1074C>G (p.Ser358=) rs369382646
NM_000243.3(MEFV):c.1081A>C (p.Arg361=) rs2141671831
NM_000243.3(MEFV):c.1086G>A (p.Lys362=)
NM_000243.3(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1099C>T (p.Leu367=)
NM_000243.3(MEFV):c.1104C>T (p.Ser368=)
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) rs11466023
NM_000243.3(MEFV):c.1107C>G (p.Pro369=) rs1276887157
NM_000243.3(MEFV):c.1107C>T (p.Pro369=)
NM_000243.3(MEFV):c.1122G>A (p.Gln374=)
NM_000243.3(MEFV):c.1140G>A (p.Lys380=) rs2141671739
NM_000243.3(MEFV):c.1143G>A (p.Gln381=)
NM_000243.3(MEFV):c.1155C>A (p.Leu385=) rs2141671722
NM_000243.3(MEFV):c.1164G>A (p.Glu388=)
NM_000243.3(MEFV):c.1170C>T (p.His390=) rs1053913228
NM_000243.3(MEFV):c.117G>A (p.Arg39=)
NM_000243.3(MEFV):c.1182C>T (p.Ile394=) rs2141671698
NM_000243.3(MEFV):c.1203T>C (p.Ser401=) rs2141671682
NM_000243.3(MEFV):c.1221C>T (p.His407=)
NM_000243.3(MEFV):c.1230C>T (p.Arg410=)
NM_000243.3(MEFV):c.1239G>A (p.Glu413=)
NM_000243.3(MEFV):c.1248C>T (p.Ala416=)
NM_000243.3(MEFV):c.1251G>A (p.Leu417=) rs2141671605
NM_000243.3(MEFV):c.1260+12C>T
NM_000243.3(MEFV):c.1260+14G>T
NM_000243.3(MEFV):c.1260+15C>A rs1428962714
NM_000243.3(MEFV):c.1260+18G>A rs104895136
NM_000243.3(MEFV):c.1260+7A>C
NM_000243.3(MEFV):c.1260+7A>G rs1209491053
NM_000243.3(MEFV):c.1260+8C>T
NM_000243.3(MEFV):c.1261-10G>A
NM_000243.3(MEFV):c.1261-10G>C rs767528614
NM_000243.3(MEFV):c.1261-16A>C
NM_000243.3(MEFV):c.126G>A (p.Arg42=)
NM_000243.3(MEFV):c.126G>C (p.Arg42=)
NM_000243.3(MEFV):c.1281G>A (p.Leu427=)
NM_000243.3(MEFV):c.1290G>C (p.Leu430=)
NM_000243.3(MEFV):c.129C>T (p.Ser43=) rs2141679569
NM_000243.3(MEFV):c.12C>A (p.Thr4=) rs2141679758
NM_000243.3(MEFV):c.1308A>G (p.Ser436=)
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1329T>C (p.Tyr443=) rs2141671129
NM_000243.3(MEFV):c.1335G>A (p.Glu445=)
NM_000243.3(MEFV):c.1347G>A (p.Val449=)
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys) rs1958986915
NM_000243.3(MEFV):c.1356+12G>C rs587781036
NM_000243.3(MEFV):c.1356+13del
NM_000243.3(MEFV):c.1356+14T>A
NM_000243.3(MEFV):c.1356+14T>C
NM_000243.3(MEFV):c.1356+8C>T
NM_000243.3(MEFV):c.1357-13C>G
NM_000243.3(MEFV):c.1357-13C>T
NM_000243.3(MEFV):c.1357-16G>A
NM_000243.3(MEFV):c.1357-18C>T
NM_000243.3(MEFV):c.1357-27_1357-18del
NM_000243.3(MEFV):c.1357-4C>T
NM_000243.3(MEFV):c.1357-8C>T
NM_000243.3(MEFV):c.1357-9G>T rs2141669286
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp) rs1567233429
NM_000243.3(MEFV):c.1383G>A (p.Arg461=) rs2141669233
NM_000243.3(MEFV):c.1386G>T (p.Val462=) rs768816084
NM_000243.3(MEFV):c.1389G>A (p.Gln463=) rs766949042
NM_000243.3(MEFV):c.1395G>A (p.Lys465=) rs2141669220
NM_000243.3(MEFV):c.1398G>A (p.Leu466=)
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu) rs104895173
NM_000243.3(MEFV):c.1416C>T (p.Phe472=) rs2141669188
NM_000243.3(MEFV):c.1419G>A (p.Leu473=)
NM_000243.3(MEFV):c.1431G>A (p.Glu477=) rs1467779773
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.3(MEFV):c.1443G>C (p.Val481=) rs762403524
NM_000243.3(MEFV):c.1449A>G (p.Ser483=)
NM_000243.3(MEFV):c.1450C>T (p.Leu484=) rs760827469
NM_000243.3(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.3(MEFV):c.145A>C (p.Arg49=)
NM_000243.3(MEFV):c.1494T>C (p.Tyr498=) rs2141669050
NM_000243.3(MEFV):c.1500C>T (p.Thr500=)
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
NM_000243.3(MEFV):c.1502_1503delinsAT (p.Arg501His)
NM_000243.3(MEFV):c.1506A>G (p.Val502=)
NM_000243.3(MEFV):c.1506A>T (p.Val502=)
NM_000243.3(MEFV):c.1522C>T (p.Leu508=) rs199937453
NM_000243.3(MEFV):c.1524G>A (p.Leu508=)
NM_000243.3(MEFV):c.1527C>G (p.Leu509=)
NM_000243.3(MEFV):c.1533G>C (p.Ala511=)
NM_000243.3(MEFV):c.153G>T (p.Val51=)
NM_000243.3(MEFV):c.1551G>A (p.Glu517=)
NM_000243.3(MEFV):c.1563C>T (p.Cys521=)
NM_000243.3(MEFV):c.1587+19G>A
NM_000243.3(MEFV):c.1588-17C>G
NM_000243.3(MEFV):c.1588-19T>G
NM_000243.3(MEFV):c.1590C>T (p.Asp530=)
NM_000243.3(MEFV):c.1610+10G>A
NM_000243.3(MEFV):c.1610+11G>A
NM_000243.3(MEFV):c.1610+16G>C
NM_000243.3(MEFV):c.1610+17T>C
NM_000243.3(MEFV):c.1610+20T>C rs771674059
NM_000243.3(MEFV):c.1610+7C>T
NM_000243.3(MEFV):c.1611-19A>G
NM_000243.3(MEFV):c.1611-4C>G
NM_000243.3(MEFV):c.1614T>C (p.Ala538=)
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala) rs922232615
NM_000243.3(MEFV):c.1623G>A (p.Val541=)
NM_000243.3(MEFV):c.1629C>G (p.Val543=)
NM_000243.3(MEFV):c.1629C>T (p.Val543=)
NM_000243.3(MEFV):c.162C>T (p.Ala54=) rs2141679534
NM_000243.3(MEFV):c.1638G>A (p.Lys546=)
NM_000243.3(MEFV):c.1671C>A (p.Ile557=)
NM_000243.3(MEFV):c.180C>T (p.Tyr60=) rs371505752
NM_000243.3(MEFV):c.183T>C (p.Tyr61=)
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter) rs1959115695
NM_000243.3(MEFV):c.204G>A (p.Gln68=) rs902893449
NM_000243.3(MEFV):c.210C>A (p.Thr70=)
NM_000243.3(MEFV):c.211C>T (p.Leu71=)
NM_000243.3(MEFV):c.213G>A (p.Leu71=) rs2141679461
NM_000243.3(MEFV):c.2208C>T (p.Ala736=) rs2141664612
NM_000243.3(MEFV):c.2220C>A (p.Ile740=) rs1437902207
NM_000243.3(MEFV):c.2220C>T (p.Ile740=)
NM_000243.3(MEFV):c.2226A>G (p.Thr742=)
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu) rs104895152
NM_000243.3(MEFV):c.222G>A (p.Leu74=)
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.2250G>A (p.Gly750=)
NM_000243.3(MEFV):c.2268C>T (p.Phe756=)
NM_000243.3(MEFV):c.2271C>T (p.Ser757=) rs772754956
NM_000243.3(MEFV):c.2283T>C (p.Arg761=)
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg) rs2141664466
NM_000243.3(MEFV):c.228C>T (p.Ala76=)
NM_000243.3(MEFV):c.2292G>A (p.Gly764=) rs142352887
NM_000243.3(MEFV):c.2301A>G (p.Thr767=)
NM_000243.3(MEFV):c.2310G>T (p.Leu770=)
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs) rs757708595
NM_000243.3(MEFV):c.2313T>A (p.Thr771=)
NM_000243.3(MEFV):c.243G>T (p.Leu81=)
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln) rs150819742
NM_000243.3(MEFV):c.255G>A (p.Glu85=)
NM_000243.3(MEFV):c.261C>T (p.His87=)
NM_000243.3(MEFV):c.264G>A (p.Arg88=)
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro) rs376971129
NM_000243.3(MEFV):c.277+16C>T
NM_000243.3(MEFV):c.277+17C>T
NM_000243.3(MEFV):c.277+18T>G
NM_000243.3(MEFV):c.277+9G>A rs2141679306
NM_000243.3(MEFV):c.278-10G>T
NM_000243.3(MEFV):c.278-11_278-9del
NM_000243.3(MEFV):c.278-20G>T
NM_000243.3(MEFV):c.278-5T>A
NM_000243.3(MEFV):c.278-8C>T
NM_000243.3(MEFV):c.27G>A (p.Leu9=)
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys) rs747515115
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg) rs772332566
NM_000243.3(MEFV):c.300C>A (p.Gly100=)
NM_000243.3(MEFV):c.303A>T (p.Thr101=)
NM_000243.3(MEFV):c.315A>G (p.Ala105=)
NM_000243.3(MEFV):c.321C>T (p.Ser107=)
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.324C>T (p.Ser108=)
NM_000243.3(MEFV):c.330G>A (p.Leu110=) rs104895177
NM_000243.3(MEFV):c.330G>C (p.Leu110=) rs104895177
NM_000243.3(MEFV):c.330G>T (p.Leu110=)
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.3(MEFV):c.363A>C (p.Pro121=)
NM_000243.3(MEFV):c.366C>T (p.Asp122=) rs1407541437
NM_000243.3(MEFV):c.369C>A (p.His123Gln) rs587783379
NM_000243.3(MEFV):c.372C>A (p.Pro124=)
NM_000243.3(MEFV):c.375G>A (p.Glu125=) rs104895142
NM_000243.3(MEFV):c.378G>A (p.Gly126=) rs777867857
NM_000243.3(MEFV):c.378G>T (p.Gly126=) rs777867857
NM_000243.3(MEFV):c.384G>A (p.Glu128=)
NM_000243.3(MEFV):c.387G>A (p.Gly129=) rs1271293463
NM_000243.3(MEFV):c.390C>T (p.Asn130=) rs780976880
NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter) rs766323718
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu) rs876660989
NM_000243.3(MEFV):c.410del (p.Gly137fs) rs767006697
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.3(MEFV):c.414A>T (p.Gly138=) rs224224
NM_000243.3(MEFV):c.423C>T (p.Ser141=)
NM_000243.3(MEFV):c.429G>A (p.Arg143=)
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter) rs876660990
NM_000243.3(MEFV):c.438G>A (p.Gln146=) rs770111364
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala) rs876660991
NM_000243.3(MEFV):c.453G>A (p.Arg151=) rs104895185
NM_000243.3(MEFV):c.462G>A (p.Ser154=) rs1555459437
NM_000243.3(MEFV):c.46C>T (p.Leu16=)
NM_000243.3(MEFV):c.474G>C (p.Leu158=)
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu) rs766670643
NM_000243.3(MEFV):c.498G>A (p.Ser166=)
NM_000243.3(MEFV):c.498G>C (p.Ser166=) rs763214197
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr) rs876660993
NM_000243.3(MEFV):c.513G>A (p.Ala171=)
NM_000243.3(MEFV):c.519C>G (p.Gly173=)
NM_000243.3(MEFV):c.525T>G (p.Pro175=)
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp) rs1555459404
NM_000243.3(MEFV):c.540G>A (p.Pro180=) rs104895139
NM_000243.3(MEFV):c.546G>A (p.Leu182=) rs2141677287
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr) rs202196752
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu) rs777009752
NM_000243.3(MEFV):c.549G>C (p.Pro183=)
NM_000243.3(MEFV):c.54C>T (p.Pro18=)
NM_000243.3(MEFV):c.552C>A (p.Gly184=)
NM_000243.3(MEFV):c.555G>C (p.Gly185=) rs1959085819
NM_000243.3(MEFV):c.564C>G (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup) rs761993422
NM_000243.3(MEFV):c.567C>G (p.Gly189=)
NM_000243.3(MEFV):c.570C>A (p.Pro190=) rs2141677237
NM_000243.3(MEFV):c.570C>T (p.Pro190=) rs2141677237
NM_000243.3(MEFV):c.579G>T (p.Ala193=)
NM_000243.3(MEFV):c.582A>G (p.Leu194=) rs1010348269
NM_000243.3(MEFV):c.582A>T (p.Leu194=)
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg) rs104895179
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.597C>T (p.Ala199=)
NM_000243.3(MEFV):c.618C>T (p.Asn206=) rs2141677135
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr) rs759326778
NM_000243.3(MEFV):c.630G>A (p.Ala210=) rs770830323
NM_000243.3(MEFV):c.630G>T (p.Ala210=) rs770830323
NM_000243.3(MEFV):c.633G>A (p.Gly211=)
NM_000243.3(MEFV):c.636G>A (p.Arg212=)
NM_000243.3(MEFV):c.637C>T (p.Leu213=) rs780525080
NM_000243.3(MEFV):c.63C>T (p.Phe21=) rs1959118627
NM_000243.3(MEFV):c.645G>A (p.Gly215=) rs746562155
NM_000243.3(MEFV):c.648G>A (p.Leu216=) rs912301729
NM_000243.3(MEFV):c.651G>A (p.Ala217=) rs886051971
NM_000243.3(MEFV):c.651G>T (p.Ala217=) rs886051971
NM_000243.3(MEFV):c.657C>G (p.Gly219=)
NM_000243.3(MEFV):c.669G>A (p.Gln223=)
NM_000243.3(MEFV):c.687C>T (p.Phe229=)
NM_000243.3(MEFV):c.690A>G (p.Glu230=) rs746500055
NM_000243.3(MEFV):c.693G>C (p.Val231=)
NM_000243.3(MEFV):c.696C>T (p.Tyr232=)
NM_000243.3(MEFV):c.697C>T (p.Leu233=) rs2141676970
NM_000243.3(MEFV):c.699G>A (p.Leu233=) rs2141676964
NM_000243.3(MEFV):c.702C>G (p.Pro234=)
NM_000243.3(MEFV):c.702C>T (p.Pro234=) rs2141676956
NM_000243.3(MEFV):c.705G>A (p.Ser235=)
NM_000243.3(MEFV):c.717A>T (p.Arg239=) rs2141676929
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.3(MEFV):c.762C>G (p.Pro254=) rs61300437
NM_000243.3(MEFV):c.762C>T (p.Pro254=)
NM_000243.3(MEFV):c.787C>T (p.Leu263=)
NM_000243.3(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.3(MEFV):c.804T>C (p.Ala268=)
NM_000243.3(MEFV):c.813G>A (p.Leu271=) rs2141676760
NM_000243.3(MEFV):c.819G>A (p.Ser273=) rs962267537
NM_000243.3(MEFV):c.831C>A (p.Pro277=)
NM_000243.3(MEFV):c.832C>A (p.Arg278=)
NM_000243.3(MEFV):c.834G>A (p.Arg278=)
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.3(MEFV):c.849G>A (p.Pro283=) rs747193370
NM_000243.3(MEFV):c.849G>T (p.Pro283=) rs747193370
NM_000243.3(MEFV):c.858G>C (p.Gly286=) rs1190369014
NM_000243.3(MEFV):c.867G>A (p.Ala289=) rs984945497
NM_000243.3(MEFV):c.882C>T (p.Gly294=)
NM_000243.3(MEFV):c.894A>G (p.Pro298=) rs1959077728
NM_000243.3(MEFV):c.903G>T (p.Ser301=)
NM_000243.3(MEFV):c.910+13C>A
NM_000243.3(MEFV):c.910+13C>G
NM_000243.3(MEFV):c.910+16T>C
NM_000243.3(MEFV):c.910+17C>T
NM_000243.3(MEFV):c.910+18C>T
NM_000243.3(MEFV):c.911-11C>T
NM_000243.3(MEFV):c.911-14C>T
NM_000243.3(MEFV):c.911-15A>G
NM_000243.3(MEFV):c.911-4C>T rs1196184630
NM_000243.3(MEFV):c.911-5C>A
NM_000243.3(MEFV):c.911-5C>T
NM_000243.3(MEFV):c.911-9T>C rs1596355109
NM_000243.3(MEFV):c.933G>A (p.Ala311=) rs774547197
NM_000243.3(MEFV):c.939C>T (p.Pro313=)
NM_000243.3(MEFV):c.951C>T (p.Ala317=)
NM_000243.3(MEFV):c.954G>A (p.Gln318=)
NM_000243.3(MEFV):c.966A>G (p.Pro322=)
NM_000243.3(MEFV):c.981T>C (p.Cys327=) rs1275216443

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