ClinVar Miner

List of variants in gene MEFV reported as uncertain significance for Familial Mediterranean fever

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 443
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
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.*845C>T rs371608683 0.01225
NM_000243.3(MEFV):c.1261-11T>G rs77086855 0.00875
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000243.3(MEFV):c.*639G>A rs181380218 0.00614
NM_000243.3(MEFV):c.*701G>A rs368896227 0.00516
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.*74C>T rs11466050 0.00365
NM_000243.3(MEFV):c.*1029G>C rs142648477 0.00351
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_000243.3(MEFV):c.-15C>G rs11466015 0.00306
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.1610+10G>T rs11466033 0.00136
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.*1008A>G rs1305464681 0.00090
NM_000243.3(MEFV):c.*724G>A rs886051968 0.00056
NM_000243.3(MEFV):c.*1002G>C rs1316887692 0.00054
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.*403A>C rs766365739 0.00026
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.*467_*469del rs746257932 0.00018
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.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_000243.3(MEFV):c.*679C>G rs886051969 0.00014
NM_000243.3(MEFV):c.*981A>G rs1354569506 0.00014
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 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.1522C>G (p.Leu508Val) rs199937453 0.00011
NM_000243.3(MEFV):c.2279C>T (p.Thr760Ile) rs759769839 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 0.00010
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.*721T>A rs1184351783 0.00007
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp) rs575678784 0.00007
NM_000243.3(MEFV):c.453G>C (p.Arg151Ser) rs104895185 0.00007
NM_000243.3(MEFV):c.*280G>C rs562541179 0.00006
NM_000243.3(MEFV):c.1129C>T (p.Arg377Cys) rs896909303 0.00006
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.289C>T (p.Gln97Ter) rs747515115 0.00006
NM_000243.3(MEFV):c.549G>A (p.Pro183=) rs587781035 0.00006
NM_000243.3(MEFV):c.796A>G (p.Lys266Glu) rs755178462 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000243.3(MEFV):c.*579C>A rs1026430345 0.00005
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.*695C>G rs1596349291 0.00004
NM_000243.3(MEFV):c.*761del rs886051967 0.00004
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.1527C>T (p.Leu509=) rs571832030 0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 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.487G>C (p.Glu163Gln) rs759918824 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000243.3(MEFV):c.611G>A (p.Arg204His) rs775663363 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.973G>A (p.Gly325Ser) rs146862274 0.00004
NM_000243.3(MEFV):c.*1096A>T rs950693142 0.00003
NM_000243.3(MEFV):c.*797T>C rs552125584 0.00003
NM_000243.3(MEFV):c.*862A>C rs914879585 0.00003
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.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.539C>T (p.Pro180Leu) rs104895134 0.00003
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly) rs745839954 0.00003
NM_000243.3(MEFV):c.64G>A (p.Glu22Lys) rs145289162 0.00003
NM_000243.3(MEFV):c.833G>A (p.Arg278Gln) rs104895187 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.1229G>A (p.Arg410His) rs1399033974 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.224G>A (p.Arg75Gln) rs376891162 0.00002
NM_000243.3(MEFV):c.238C>T (p.Arg80Cys) rs766608226 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.344C>G (p.Pro115Arg) rs201766654 0.00002
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr) rs773320625 0.00002
NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys) rs769605806 0.00002
NM_000243.3(MEFV):c.745A>G (p.Thr249Ala) rs764952529 0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) rs104895110 0.00002
NM_000243.3(MEFV):c.*1080A>G rs568129540 0.00001
NM_000243.3(MEFV):c.*19C>T rs761376734 0.00001
NM_000243.3(MEFV):c.*543C>T rs886051970 0.00001
NM_000243.3(MEFV):c.*690G>T rs1308863589 0.00001
NM_000243.3(MEFV):c.101A>C (p.Gln34Pro) rs1959117792 0.00001
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser) rs774397209 0.00001
NM_000243.3(MEFV):c.1048C>T (p.Pro350Ser) rs756751963 0.00001
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu) rs104895214 0.00001
NM_000243.3(MEFV):c.1211A>G (p.His404Arg) rs755659290 0.00001
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp) rs758868622 0.00001
NM_000243.3(MEFV):c.1399G>A (p.Glu467Lys) rs758485822 0.00001
NM_000243.3(MEFV):c.1401G>A (p.Glu467=) rs1398639205 0.00001
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys) rs104895104 0.00001
NM_000243.3(MEFV):c.1450C>A (p.Leu484Met) rs760827469 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.1501C>T (p.Arg501Cys) rs104895101 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr) rs150730718 0.00001
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr) rs104895199 0.00001
NM_000243.3(MEFV):c.1559A>T (p.Glu520Val) rs769888172 0.00001
NM_000243.3(MEFV):c.1577A>G (p.Glu526Gly) rs772349671 0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) rs550970304 0.00001
NM_000243.3(MEFV):c.2169C>T (p.Asp723=) rs104895117 0.00001
NM_000243.3(MEFV):c.2227T>C (p.Phe743Leu) rs876661026 0.00001
NM_000243.3(MEFV):c.2303C>G (p.Ala768Gly) rs748264438 0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val) rs104895163 0.00001
NM_000243.3(MEFV):c.2330_2331del (p.Gly777fs) rs753946287 0.00001
NM_000243.3(MEFV):c.2336G>T (p.Gly779Val) rs1459541096 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser) rs145015653 0.00001
NM_000243.3(MEFV):c.301A>G (p.Thr101Ala) rs1342717419 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.32C>G (p.Ser11Cys) rs149693562 0.00001
NM_000243.3(MEFV):c.377G>T (p.Gly126Val) rs1390689550 0.00001
NM_000243.3(MEFV):c.401C>T (p.Pro134Leu) rs377250147 0.00001
NM_000243.3(MEFV):c.403T>A (p.Tyr135Asn) rs145078602 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.448G>A (p.Gly150Arg) rs1959088372 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.515A>C (p.Gln172Pro) rs104895211 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.552C>T (p.Gly184=) rs1488496414 0.00001
NM_000243.3(MEFV):c.553G>A (p.Gly185Arg) rs1266566289 0.00001
NM_000243.3(MEFV):c.566G>T (p.Gly189Val) rs923516953 0.00001
NM_000243.3(MEFV):c.575G>C (p.Arg192Thr) rs1390723147 0.00001
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg) rs765450054 0.00001
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro) rs1959084389 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.675G>C (p.Glu225Asp) rs104895181 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.704C>T (p.Ser235Leu) rs757793348 0.00001
NM_000243.3(MEFV):c.786T>C (p.Thr262=) rs575521131 0.00001
NM_000243.3(MEFV):c.801A>G (p.Thr267=) rs141455838 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.922G>T (p.Asp308Tyr) rs368322244 0.00001
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys) rs757216434 0.00001
NM_000243.3(MEFV):c.995G>A (p.Cys332Tyr) rs1379609898 0.00001
NC_000016.10:g.(?_3243121)_(3257201_?)dup
NC_000016.10:g.3256984G>C
NC_000016.9:g.(?_3293141)_(3294608_?)del
NC_000016.9:g.(?_3293141)_(3297266_?)del
NC_000016.9:g.(?_3304138)_(3306587_?)del
NC_000016.9:g.(?_3306291)_(3306587_?)dup
NM_000243.3(MEFV):c.*169C>T rs558576646
NM_000243.3(MEFV):c.*190G>C rs114930858
NM_000243.3(MEFV):c.*292C>G rs560496227
NM_000243.3(MEFV):c.*394C>T rs1017341912
NM_000243.3(MEFV):c.*761C>G rs281865551
NM_000243.3(MEFV):c.*779del rs60407399
NM_000243.3(MEFV):c.*818A>C rs886051965
NM_000243.3(MEFV):c.*959T>C rs896051894
NM_000243.3(MEFV):c.-12C>G rs104895148
NM_000243.3(MEFV):c.1004C>A (p.Pro335His)
NM_000243.3(MEFV):c.1005C>T (p.Pro335=) rs567739580
NM_000243.3(MEFV):c.1018G>C (p.Gly340Arg) rs1959002154
NM_000243.3(MEFV):c.1019G>A (p.Gly340Glu)
NM_000243.3(MEFV):c.1029G>T (p.Gln343His) rs1959001872
NM_000243.3(MEFV):c.1030G>T (p.Ala344Ser)
NM_000243.3(MEFV):c.1034C>T (p.Ser345Leu)
NM_000243.3(MEFV):c.1075C>A (p.His359Asn) rs2141671836
NM_000243.3(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.10A>G (p.Thr4Ala)
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) rs11466023
NM_000243.3(MEFV):c.1108dup (p.Gln370fs) rs1214124340
NM_000243.3(MEFV):c.1115T>C (p.Leu372Pro) rs1218172738
NM_000243.3(MEFV):c.1117C>T (p.Pro373Ser) rs1567234649
NM_000243.3(MEFV):c.1127A>G (p.Lys376Arg) rs1009404209
NM_000243.3(MEFV):c.1129C>G (p.Arg377Gly) rs896909303
NM_000243.3(MEFV):c.1141C>G (p.Gln381Glu)
NM_000243.3(MEFV):c.1141C>T (p.Gln381Ter)
NM_000243.3(MEFV):c.1143G>C (p.Gln381His)
NM_000243.3(MEFV):c.1207G>A (p.Glu403Lys)
NM_000243.3(MEFV):c.1212C>A (p.His404Gln) rs561866815
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.3(MEFV):c.1252G>A (p.Glu418Lys) rs1958996963
NM_000243.3(MEFV):c.1255C>A (p.His419Asn) rs2141671598
NM_000243.3(MEFV):c.1265A>G (p.Lys422Arg) rs1958989238
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val) rs104895149
NM_000243.3(MEFV):c.1268T>G (p.Ile423Ser)
NM_000243.3(MEFV):c.1284G>T (p.Glu428Asp)
NM_000243.3(MEFV):c.1297C>G (p.Leu433Val) rs1596354307
NM_000243.3(MEFV):c.1301_1302dup (p.Lys435fs) rs2141671176
NM_000243.3(MEFV):c.1303A>C (p.Lys435Gln) rs1958988591
NM_000243.3(MEFV):c.1308_1309del (p.Glu438fs)
NM_000243.3(MEFV):c.130C>T (p.Gln44Ter) rs1172820862
NM_000243.3(MEFV):c.1318C>A (p.Gln440Lys)
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1327T>A (p.Tyr443Asn)
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys) rs1958986915
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp) rs1567233429
NM_000243.3(MEFV):c.1376A>C (p.Lys459Thr)
NM_000243.3(MEFV):c.1381C>T (p.Arg461Trp)
NM_000243.3(MEFV):c.1382G>C (p.Arg461Pro)
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu) rs104895173
NM_000243.3(MEFV):c.1412A>C (p.Tyr471Ser)
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter) rs104895207
NM_000243.3(MEFV):c.1428_1429delinsGA (p.Glu477Lys)
NM_000243.3(MEFV):c.1431G>T (p.Glu477Asp)
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.3(MEFV):c.1437C>A (p.Phe479Leu)
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1441G>T (p.Val481Leu) rs1487427766
NM_000243.3(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.3(MEFV):c.1463G>A (p.Gly488Asp) rs1596352746
NM_000243.3(MEFV):c.1465C>T (p.Gln489Ter) rs1958954245
NM_000243.3(MEFV):c.1469T>C (p.Met490Thr) rs2141669073
NM_000243.3(MEFV):c.1499C>T (p.Thr500Ile)
NM_000243.3(MEFV):c.14dup (p.Pro5_Ser6insTer)
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
NM_000243.3(MEFV):c.1522C>T (p.Leu508=) rs199937453
NM_000243.3(MEFV):c.1530T>A (p.Asp510Glu) rs224206
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu) rs104895168
NM_000243.3(MEFV):c.1552G>A (p.Ala518Thr) rs2141668949
NM_000243.3(MEFV):c.1587+5G>A rs1555458661
NM_000243.3(MEFV):c.1587+5G>T rs1555458661
NM_000243.3(MEFV):c.1610+5_1610+6insACCT
NM_000243.3(MEFV):c.1619_1620del (p.Thr540fs) rs1958911254
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala) rs922232615
NM_000243.3(MEFV):c.1627G>C (p.Val543Leu) rs1958911016
NM_000243.3(MEFV):c.1639T>C (p.Trp547Arg)
NM_000243.3(MEFV):c.163A>G (p.Thr55Ala)
NM_000243.3(MEFV):c.1648C>G (p.Pro550Ala) rs2141666419
NM_000243.3(MEFV):c.1651C>G (p.Gln551Glu)
NM_000243.3(MEFV):c.1652A>G (p.Gln551Arg)
NM_000243.3(MEFV):c.1664A>C (p.Gln555Pro) rs1958910539
NM_000243.3(MEFV):c.1668G>C (p.Lys556Asn) rs1567232255
NM_000243.3(MEFV):c.181T>A (p.Tyr61Asn) rs768043268
NM_000243.3(MEFV):c.182A>G (p.Tyr61Cys)
NM_000243.3(MEFV):c.196G>A (p.Ala66Thr)
NM_000243.3(MEFV):c.1A>C (p.Met1Leu)
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter) rs1959115695
NM_000243.3(MEFV):c.209C>G (p.Thr70Ser) rs775224100
NM_000243.3(MEFV):c.2177T>G (p.Val726Gly)
NM_000243.3(MEFV):c.217G>A (p.Val73Ile) rs2141679452
NM_000243.3(MEFV):c.2194T>C (p.Tyr732His)
NM_000243.3(MEFV):c.2204C>T (p.Thr735Ile) rs1958885115
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu) rs104895152
NM_000243.3(MEFV):c.2230G>C (p.Ala744Pro) rs61732874
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.2236T>G (p.Cys746Gly) rs1407457811
NM_000243.3(MEFV):c.2246C>A (p.Ser749Tyr) rs104895171
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.2266_2267insGAAT (p.Phe756Ter)
NM_000243.3(MEFV):c.2271C>T (p.Ser757=) rs772754956
NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser) rs774807554
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg) rs2141664466
NM_000243.3(MEFV):c.2291G>C (p.Gly764Ala)
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala) rs387907565
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs) rs757708595
NM_000243.3(MEFV):c.2327G>C (p.Gly776Ala) rs1479429941
NM_000243.3(MEFV):c.2329G>C (p.Gly777Arg)
NM_000243.3(MEFV):c.2330dup (p.Gln778fs) rs1596349724
NM_000243.3(MEFV):c.2332C>T (p.Gln778Ter) rs1366885918
NM_000243.3(MEFV):c.2333A>G (p.Gln778Arg) rs2141664404
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln) rs150819742
NM_000243.3(MEFV):c.252G>C (p.Glu84Asp)
NM_000243.3(MEFV):c.25C>T (p.Leu9=) rs104895146
NM_000243.3(MEFV):c.261del (p.His87fs) rs1959114310
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro) rs376971129
NM_000243.3(MEFV):c.268_271del (p.Ala90fs)
NM_000243.3(MEFV):c.277+1G>A
NM_000243.3(MEFV):c.277+1G>T rs1328913013
NM_000243.3(MEFV):c.277+4A>C
NM_000243.3(MEFV):c.283T>C (p.Ser95Pro) rs1463263180
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.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.326C>T (p.Ser109Phe)
NM_000243.3(MEFV):c.330G>A (p.Leu110=) rs104895177
NM_000243.3(MEFV):c.334G>A (p.Glu112Lys) rs1185925415
NM_000243.3(MEFV):c.340A>C (p.Lys114Gln) rs1252844849
NM_000243.3(MEFV):c.340A>G (p.Lys114Glu) rs1252844849
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.343C>T (p.Pro115Ser)
NM_000243.3(MEFV):c.35C>T (p.Thr12Ile)
NM_000243.3(MEFV):c.367C>G (p.His123Asp) rs1959090836
NM_000243.3(MEFV):c.369C>A (p.His123Gln) rs587783379
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) rs104895121
NM_000243.3(MEFV):c.377G>A (p.Gly126Glu)
NM_000243.3(MEFV):c.378G>T (p.Gly126=) rs777867857
NM_000243.3(MEFV):c.382G>A (p.Glu128Lys)
NM_000243.3(MEFV):c.383A>T (p.Glu128Val) rs201172310
NM_000243.3(MEFV):c.385G>A (p.Gly129Arg) rs1344302872
NM_000243.3(MEFV):c.390C>A (p.Asn130Lys)
NM_000243.3(MEFV):c.390C>G (p.Asn130Lys) rs780976880
NM_000243.3(MEFV):c.392G>A (p.Gly131Asp) rs1959090165
NM_000243.3(MEFV):c.398G>T (p.Arg133Leu) rs1959090017
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.409G>A (p.Gly137Ser) rs895839095
NM_000243.3(MEFV):c.410del (p.Gly137fs) rs767006697
NM_000243.3(MEFV):c.411_412insT (p.Gly138fs) rs758874425
NM_000243.3(MEFV):c.414A>T (p.Gly138=) rs224224
NM_000243.3(MEFV):c.414_415delinsGT (p.Ala139Ser) rs1567237666
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro) rs104895190
NM_000243.3(MEFV):c.433A>C (p.Ser145Arg) rs2141677519
NM_000243.3(MEFV):c.434G>C (p.Ser145Thr) rs1342434040
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter) rs876660990
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala) rs876660991
NM_000243.3(MEFV):c.442G>A (p.Glu148Lys) rs3743930
NM_000243.3(MEFV):c.450del (p.Arg151fs) rs2141677468
NM_000243.3(MEFV):c.451A>T (p.Arg151Trp)
NM_000243.3(MEFV):c.454G>C (p.Gly152Arg) rs1266119651
NM_000243.3(MEFV):c.455G>C (p.Gly152Ala)
NM_000243.3(MEFV):c.464G>C (p.Arg155Thr) rs483353017
NM_000243.3(MEFV):c.481C>G (p.Arg161Gly)
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala) rs104895106
NM_000243.3(MEFV):c.490A>T (p.Lys164Ter) rs1306636942
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu) rs766670643
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr) rs876660993
NM_000243.3(MEFV):c.523C>T (p.Pro175Ser)
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp) rs1555459404
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile) rs104895125
NM_000243.3(MEFV):c.539C>A (p.Pro180Gln) rs104895134
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg) rs104895134
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr) rs202196752
NM_000243.3(MEFV):c.547C>T (p.Pro183Ser)
NM_000243.3(MEFV):c.548C>G (p.Pro183Arg)
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu) rs777009752
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.568C>T (p.Pro190Ser) rs1959085571
NM_000243.3(MEFV):c.577G>A (p.Ala193Thr) rs876660994
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.585G>C (p.Glu195Asp) rs200766991
NM_000243.3(MEFV):c.585G>T (p.Glu195Asp) rs200766991
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg) rs104895179
NM_000243.3(MEFV):c.587G>C (p.Gly196Ala)
NM_000243.3(MEFV):c.597dup (p.Glu200fs) rs1567237352
NM_000243.3(MEFV):c.5C>G (p.Ala2Gly) rs200148051
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs) rs104895180
NM_000243.3(MEFV):c.611G>T (p.Arg204Leu) rs775663363
NM_000243.3(MEFV):c.61T>C (p.Phe21Leu)
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr) rs759326778
NM_000243.3(MEFV):c.629C>G (p.Ala210Gly)
NM_000243.3(MEFV):c.638T>C (p.Leu213Pro)
NM_000243.3(MEFV):c.63C>A (p.Phe21Leu)
NM_000243.3(MEFV):c.65del (p.Glu22fs) rs747811800
NM_000243.3(MEFV):c.664G>C (p.Gly222Arg) rs772938936
NM_000243.3(MEFV):c.682C>T (p.Pro228Ser) rs1596358139
NM_000243.3(MEFV):c.683C>T (p.Pro228Leu)
NM_000243.3(MEFV):c.686T>G (p.Phe229Cys) rs1959082299
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln) rs104895080
NM_000243.3(MEFV):c.688G>T (p.Glu230Ter) rs104895080
NM_000243.3(MEFV):c.711G>T (p.Lys237Asn) rs1053594972
NM_000243.3(MEFV):c.718C>G (p.Pro240Ala)
NM_000243.3(MEFV):c.718C>T (p.Pro240Ser) rs1310144955
NM_000243.3(MEFV):c.721A>G (p.Arg241Gly)
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000243.3(MEFV):c.728T>C (p.Leu243Pro)
NM_000243.3(MEFV):c.739A>G (p.Ile247Val) rs1472692347
NM_000243.3(MEFV):c.744_745delinsCT (p.Thr249Ser) rs2141676883
NM_000243.3(MEFV):c.749G>C (p.Gly250Ala)
NM_000243.3(MEFV):c.74A>G (p.Lys25Arg)
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.3(MEFV):c.760C>T (p.Pro254Ser)
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138
NM_000243.3(MEFV):c.766A>G (p.Asn256Asp) rs1567237118
NM_000243.3(MEFV):c.778C>A (p.Leu260Ile)
NM_000243.3(MEFV):c.790G>A (p.Glu264Lys) rs1332262848
NM_000243.3(MEFV):c.799A>T (p.Thr267Ser)
NM_000243.3(MEFV):c.803C>A (p.Ala268Asp) rs104895123
NM_000243.3(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.3(MEFV):c.826G>T (p.Glu276Ter) rs876660995
NM_000243.3(MEFV):c.836C>T (p.Ala279Val) rs1596357961
NM_000243.3(MEFV):c.847C>G (p.Pro283Ala)
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.3(MEFV):c.854G>C (p.Gly285Ala)
NM_000243.3(MEFV):c.857G>C (p.Gly286Ala) rs1959078224
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu) rs104895132
NM_000243.3(MEFV):c.868G>A (p.Asp290Asn)
NM_000243.3(MEFV):c.881G>T (p.Gly294Val) rs1959077891
NM_000243.3(MEFV):c.884dup (p.Gly296fs) rs1301893365
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly) rs104895167
NM_000243.3(MEFV):c.908C>T (p.Thr303Ile)
NM_000243.3(MEFV):c.909C>A (p.Thr303=) rs1429025477
NM_000243.3(MEFV):c.916C>G (p.Pro306Ala)
NM_000243.3(MEFV):c.916C>T (p.Pro306Ser) rs906390314
NM_000243.3(MEFV):c.933G>A (p.Ala311=) rs774547197
NM_000243.3(MEFV):c.943T>C (p.Cys315Arg)
NM_000243.3(MEFV):c.949G>A (p.Ala317Thr)
NM_000243.3(MEFV):c.94A>T (p.Ser32Cys) rs1959117976
NM_000243.3(MEFV):c.963C>A (p.Asp321Glu) rs771969495
NM_000243.3(MEFV):c.965C>G (p.Pro322Arg)
NM_000243.3(MEFV):c.967G>C (p.Val323Leu)
NM_000243.3(MEFV):c.973G>C (p.Gly325Arg) rs146862274

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.