ClinVar Miner

List of variants in gene MEFV reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_000243.3(MEFV):c.1356+267C>T rs224211 0.59651
NM_000243.3(MEFV):c.1356+44A>G rs224212 0.59650
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.59561
NM_000243.3(MEFV):c.*267G>A rs2741918 0.58813
NM_000243.3(MEFV):c.*245G>A rs2741919 0.58215
NM_000243.3(MEFV):c.1428A>G (p.Gln476=) rs224207 0.58038
NM_000243.3(MEFV):c.1611-343T>G rs170383 0.57940
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000243.3(MEFV):c.1610+96C>T rs224204 0.46165
NM_000243.3(MEFV):c.1588-69G>A rs224205 0.46073
NM_000243.3(MEFV):c.1611-90C>T rs1231124 0.41206
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000243.3(MEFV):c.1610+186A>G rs767067 0.11266
NC_000016.10:g.3256757C>T rs11466014 0.02353
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_000243.2(MEFV):c.-330G>A rs11466013 0.01286
NM_000243.3(MEFV):c.911-78T>C rs11466021 0.01123
NM_000243.3(MEFV):c.1587+147C>T rs11466031 0.00938
NM_000243.3(MEFV):c.1587+214T>C rs11466032 0.00934
NM_000243.3(MEFV):c.1356+270C>T rs115453411 0.00932
NM_000243.3(MEFV):c.910+29C>G rs11466019 0.00915
NM_000243.3(MEFV):c.1610+295G>A rs11466035 0.00896
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.1357-260A>T rs114899317 0.00683
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000243.3(MEFV):c.1260+92G>A rs104895209 0.00590
NM_000243.3(MEFV):c.1611-170C>G rs11466040 0.00581
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_000243.3(MEFV):c.1611-134G>C rs140984735 0.00554
NM_000243.3(MEFV):c.1610+257G>C rs11466034 0.00483
NM_000243.3(MEFV):c.1356+31G>T rs142775938 0.00459
NM_000243.3(MEFV):c.911-145G>T rs11466020 0.00406
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.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.-15C>G rs11466015 0.00306
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
NC_000016.10:g.3256969G>A rs533772017 0.00192
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
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.911-12G>A rs372016564 0.00092
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.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
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.1370C>T (p.Ala457Val) rs104895151 0.00020
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.1518C>T (p.Ile506=) rs104895099 0.00015
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.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 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.663G>C (p.Pro221=) rs104895162 0.00007
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.796A>G (p.Lys266Glu) rs755178462 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
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.1337A>C (p.Glu446Ala) rs749651486 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.948C>T (p.His316=) rs150252937 0.00004
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu) rs377754606 0.00003
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val) rs104895194 0.00003
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp) rs759997694 0.00003
NM_000243.3(MEFV):c.1089C>T (p.Ser363=) rs104895170 0.00002
NM_000243.3(MEFV):c.239G>A (p.Arg80His) rs201075710 0.00002
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr) rs773320625 0.00002
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser) rs774397209 0.00001
NM_000243.3(MEFV):c.1211A>G (p.His404Arg) rs755659290 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr) rs104895199 0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) rs550970304 0.00001
NM_000243.3(MEFV):c.2166G>A (p.Val722=) rs762351424 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.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser) rs145015653 0.00001
NM_000243.3(MEFV):c.307G>C (p.Asp103His) rs757543348 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.515A>C (p.Gln172Pro) rs104895211 0.00001
NM_000243.3(MEFV):c.524C>A (p.Pro175His) rs104895126 0.00001
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000243.3(MEFV):c.786T>C (p.Thr262=) rs575521131 0.00001
NM_000243.3(MEFV):c.*190G>C rs114930858
NM_000243.3(MEFV):c.1006G>A (p.Glu336Lys)
NM_000243.3(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1174G>A (p.Glu392Lys) rs1390626254
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.3(MEFV):c.1260+18G>A rs104895136
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1356+12G>C rs587781036
NM_000243.3(MEFV):c.1357-208A>C rs7185672
NM_000243.3(MEFV):c.1357-306del rs11466028
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.3(MEFV):c.1440dup (p.Val481fs) rs1085307581
NM_000243.3(MEFV):c.1611-344dup rs75994097
NM_000243.3(MEFV):c.18T>A (p.Ser6Arg) rs772221366
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.2236T>C (p.Cys746Arg) rs1407457811
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.233A>T (p.Asn78Ile) rs145015653
NM_000243.3(MEFV):c.248C>T (p.Ala83Val)
NM_000243.3(MEFV):c.277+13A>G rs879253897
NM_000243.3(MEFV):c.278-59G>A rs115037190
NM_000243.3(MEFV):c.282T>G (p.Tyr94Ter) rs762535762
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.3(MEFV):c.365A>G (p.Asp122Gly) rs876660988
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) rs104895121
NM_000243.3(MEFV):c.401C>A (p.Pro134Gln) rs377250147
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu) rs876660989
NM_000243.3(MEFV):c.411C>G (p.Gly137=) rs1266277814
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.427_442dup (p.Glu148fs) rs876660992
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.444G>C (p.Glu148Asp) rs2141677476
NM_000243.3(MEFV):c.495C>T (p.Ala165=) rs224223
NM_000243.3(MEFV):c.505del (p.Leu169fs)
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr) rs876660993
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp) rs1555459404
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr) rs202196752
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.577G>A (p.Ala193Thr) rs876660994
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.818C>T (p.Ser273Leu) rs483353019
NM_000243.3(MEFV):c.819G>A (p.Ser273=) rs962267537
NM_000243.3(MEFV):c.826G>T (p.Glu276Ter) rs876660995
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.3(MEFV):c.909C>T (p.Thr303=) rs1429025477
NM_000243.3(MEFV):c.911-23G>A rs754637045
NM_000243.3(MEFV):c.941_942delinsAT (p.Arg314His) rs1085307824
NM_000243.3(MEFV):c.98T>G (p.Val33Gly)

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