ClinVar Miner

List of variants in gene MEFV studied for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 277
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HGVS dbSNP
NM_000243.2(MEFV):c.*1029G>C rs142648477
NM_000243.2(MEFV):c.*1056G>T rs450021
NM_000243.2(MEFV):c.*1080A>G rs568129540
NM_000243.2(MEFV):c.*12T>C rs104895183
NM_000243.2(MEFV):c.*133G>A rs2075849
NM_000243.2(MEFV):c.*169C>T rs558576646
NM_000243.2(MEFV):c.*19C>T rs761376734
NM_000243.2(MEFV):c.*21C>G rs104895200
NM_000243.2(MEFV):c.*245G>A rs2741919
NM_000243.2(MEFV):c.*267G>A rs2741918
NM_000243.2(MEFV):c.*280G>C rs562541179
NM_000243.2(MEFV):c.*292C>G rs560496227
NM_000243.2(MEFV):c.*403A>C rs766365739
NM_000243.2(MEFV):c.*466_*468delTTT rs61379197
NM_000243.2(MEFV):c.*467_*469delTTG rs746257932
NM_000243.2(MEFV):c.*474C>G rs11466051
NM_000243.2(MEFV):c.*475A>G rs11466052
NM_000243.2(MEFV):c.*543C>T rs886051970
NM_000243.2(MEFV):c.*639G>A rs181380218
NM_000243.2(MEFV):c.*679C>G rs886051969
NM_000243.2(MEFV):c.*701G>A rs368896227
NM_000243.2(MEFV):c.*724G>A rs886051968
NM_000243.2(MEFV):c.*743T>C rs170387
NM_000243.2(MEFV):c.*74C>T rs11466050
NM_000243.2(MEFV):c.*761delC rs886051967
NM_000243.2(MEFV):c.*779delT rs60407399
NM_000243.2(MEFV):c.*818A>C rs886051965
NM_000243.2(MEFV):c.*836_*837insACT rs34895148
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.-12C>G rs104895148
NM_000243.2(MEFV):c.-15C>G rs11466015
NM_000243.2(MEFV):c.-614C>G rs11466012
NM_000243.2(MEFV):c.1012G>C (p.Val338Leu) rs483353018
NM_000243.2(MEFV):c.1016C>T (p.Ser339Phe) rs104895157
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1056C>T (p.Cys352=) rs104895164
NM_000243.2(MEFV):c.1060C>T (p.Arg354Trp) rs104895116
NM_000243.2(MEFV):c.1061G>A (p.Arg354Gln) rs763015849
NM_000243.2(MEFV):c.1082G>C (p.Arg361Thr) rs190405488
NM_000243.2(MEFV):c.1089C>T (p.Ser363=) rs104895170
NM_000243.2(MEFV):c.1091C>T (p.Pro364Leu) rs104895214
NM_000243.2(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.2(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.2(MEFV):c.1099C>G (p.Leu367Val) rs1057519328
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1117C>T (p.Pro373Ser)
NM_000243.2(MEFV):c.1129C>T (p.Arg377Cys) rs896909303
NM_000243.2(MEFV):c.1131C>T (p.Arg377=)
NM_000243.2(MEFV):c.1147C>A (p.Gln383Lys) rs104895188
NM_000243.2(MEFV):c.1166A>T (p.Asp389Val) rs786205886
NM_000243.2(MEFV):c.1173T>C (p.Asp391=) rs146077729
NM_000243.2(MEFV):c.1179C>T (p.Pro393=) rs104895082
NM_000243.2(MEFV):c.1211A>G (p.His404Arg) rs755659290
NM_000243.2(MEFV):c.1222C>T (p.Arg408Trp) rs758868622
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.2(MEFV):c.1245C>T (p.Val415=) rs104895195
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1260+18G>C rs104895136
NM_000243.2(MEFV):c.1260+92G>A rs104895209
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1261-28A>G rs104895140
NM_000243.2(MEFV):c.1267A>G (p.Ile423Val) rs104895149
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1337A>C (p.Glu446Ala) rs749651486
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1405G>T (p.Val469Leu) rs104895173
NM_000243.2(MEFV):c.1406T>C (p.Val469Ala) rs778686119
NM_000243.2(MEFV):c.1413C>A (p.Tyr471Ter) rs104895207
NM_000243.2(MEFV):c.1420G>A (p.Glu474Lys) rs104895104
NM_000243.2(MEFV):c.1422G>A (p.Glu474=) rs224208
NM_000243.2(MEFV):c.1428A>G (p.Gln476=) rs224207
NM_000243.2(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.1455G>A (p.Glu485=)
NM_000243.2(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.2(MEFV):c.1459G>C (p.Val487Leu) rs104895100
NM_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
NM_000243.2(MEFV):c.1502G>A (p.Arg501His) rs104895196
NM_000243.2(MEFV):c.1503C>T (p.Arg501=) rs76464258
NM_000243.2(MEFV):c.1504G>A (p.Val502Ile) rs140462252
NM_000243.2(MEFV):c.1508C>G (p.Ser503Cys) rs190705322
NM_000243.2(MEFV):c.1513G>T (p.Asp505Tyr) rs150730718
NM_000243.2(MEFV):c.1516A>G (p.Ile506Val) rs104895186
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1522C>T (p.Leu508=) rs199937453
NM_000243.2(MEFV):c.1527C>T (p.Leu509=) rs571832030
NM_000243.2(MEFV):c.1530T>C (p.Asp510=) rs224206
NM_000243.2(MEFV):c.1538T>C (p.Ile513Thr) rs104895199
NM_000243.2(MEFV):c.1541G>A (p.Gly514Glu) rs104895168
NM_000243.2(MEFV):c.1587+29G>T rs104895206
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.1587+5G>A rs1555458661
NM_000243.2(MEFV):c.1587+5G>T rs1555458661
NM_000243.2(MEFV):c.1675C>T (p.Leu559Phe) rs104895113
NM_000243.2(MEFV):c.1727-58T>C rs104895158
NM_000243.2(MEFV):c.1729A>T (p.Thr577Ser) rs104895193
NM_000243.2(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.2(MEFV):c.1736G>A (p.Arg579His) rs574055513
NM_000243.2(MEFV):c.1744A>C (p.Met582Leu) rs104895165
NM_000243.2(MEFV):c.1759+8C>T rs77380520
NM_000243.2(MEFV):c.1760-28T>A rs104895169
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.1764A= (p.Pro588=) rs1231122
NM_000243.2(MEFV):c.1764A>G (p.Pro588=) rs1231122
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1776C>T (p.Gly592=) rs104895161
NM_000243.2(MEFV):c.1780C>T (p.Gln594Ter) rs780770024
NM_000243.2(MEFV):c.1784C>T (p.Ala595Val) rs104895191
NM_000243.2(MEFV):c.1792+39G>A rs104895176
NM_000243.2(MEFV):c.1792+57C>T rs104895150
NM_000243.2(MEFV):c.1793-14A>G rs104895141
NM_000243.2(MEFV):c.1795A>G (p.Asn599Asp) rs104895210
NM_000243.2(MEFV):c.1803T>A (p.Ile601=) rs779572391
NM_000243.2(MEFV):c.1818C>T (p.Thr606=) rs104895213
NM_000243.2(MEFV):c.1827C>G (p.Pro609=) rs104895135
NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) rs104895128
NM_000243.2(MEFV):c.1898C>T (p.Pro633Leu) rs976279218
NM_000243.2(MEFV):c.1899G>T (p.Pro633=) rs776315170
NM_000243.2(MEFV):c.1910A>G (p.Asp637Gly) rs387907568
NM_000243.2(MEFV):c.1920C>G (p.Ile640Met) rs104895115
NM_000243.2(MEFV):c.1921A>T (p.Ile641Phe) rs104895147
NM_000243.2(MEFV):c.1937C>T (p.Pro646Leu) rs104895107
NM_000243.2(MEFV):c.1938G>A (p.Pro646=) rs104895160
NM_000243.2(MEFV):c.1946T>C (p.Leu649Pro) rs104895108
NM_000243.2(MEFV):c.1949C>A (p.Ser650Tyr) rs142748016
NM_000243.2(MEFV):c.1956C>A (p.Arg652=) rs104895084
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.195C>T (p.Tyr65=) rs104895077
NM_000243.2(MEFV):c.1967A>C (p.Glu656Ala) rs104895086
NM_000243.2(MEFV):c.1975G>T (p.Val659Phe) rs104895212
NM_000243.2(MEFV):c.1981G>A (p.Asp661Asn) rs104895120
NM_000243.2(MEFV):c.198C>T (p.Ala66=) rs149380763
NM_000243.2(MEFV):c.1996A>G (p.Ile666Val) rs387907566
NM_000243.2(MEFV):c.2024G>A (p.Ser675Asn) rs104895087
NM_000243.2(MEFV):c.2033G>A (p.Gly678Glu) rs104895088
NM_000243.2(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.2(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2042C>T (p.Thr681Ile) rs104895090
NM_000243.2(MEFV):c.2044_2045delCT (p.Leu682Valfs)
NM_000243.2(MEFV):c.2049G>A (p.Ser683=) rs104895092
NM_000243.2(MEFV):c.2053G>A (p.Glu685Lys) rs587783378
NM_000243.2(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.2(MEFV):c.2063A>G (p.Tyr688Cys) rs104895122
NM_000243.2(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.2(MEFV):c.2076_2078delAAT (p.Ile692del) rs104895093
NM_000243.2(MEFV):c.2079G>C (p.Met693Ile) rs104895215
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2080A>T (p.Met694Leu) rs61752717
NM_000243.2(MEFV):c.2081_2083delTGA (p.Met694del) rs104895091
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2084A>T (p.Lys695Met) rs104895094
NM_000243.2(MEFV):c.2085G>C (p.Lys695Asn) rs104895208
NM_000243.2(MEFV):c.2103G>A (p.Ala701=) rs104895095
NM_000243.2(MEFV):c.2105C>G (p.Ser702Cys) rs104895166
NM_000243.2(MEFV):c.2109C>T (p.Ser703=) rs104895118
NM_000243.2(MEFV):c.2110G>A (p.Val704Ile) rs104895096
NM_000243.2(MEFV):c.2113C>T (p.Pro705Ser) rs104895145
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.2122C>T (p.Arg708Cys) rs104895202
NM_000243.2(MEFV):c.2126T>G (p.Leu709Arg) rs104895184
NM_000243.2(MEFV):c.2149C>A (p.Arg717Ser) rs104895192
NM_000243.2(MEFV):c.2160C>G (p.Ile720Met) rs104895102
NM_000243.2(MEFV):c.2163C>T (p.Phe721=) rs11466047
NM_000243.2(MEFV):c.2164G>A (p.Val722Met) rs104895201
NM_000243.2(MEFV):c.2169C>T (p.Asp723=) rs104895117
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2228T>A (p.Phe743Tyr) rs104895216
NM_000243.2(MEFV):c.2229C>G (p.Phe743Leu) rs104895152
NM_000243.2(MEFV):c.2229C>T (p.Phe743=) rs104895152
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.2(MEFV):c.2259A>G (p.Gln753=) rs104895174
NM_000243.2(MEFV):c.2263A>G (p.Ile755Val) rs104895194
NM_000243.2(MEFV):c.2272C>T (p.Pro758Ser) rs104895114
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.2305C>G (p.Pro769Ala) rs387907565
NM_000243.2(MEFV):c.2314A>G (p.Ile772Val) rs104895163
NM_000243.2(MEFV):c.2330_2331delGT (p.Gly777Alafs) rs753946287
NM_000243.2(MEFV):c.2337G>C (p.Gly779=) rs104895153
NM_000243.2(MEFV):c.2338C>A (p.Pro780Thr) rs104895154
NM_000243.2(MEFV):c.250G>A (p.Glu84Lys)
NM_000243.2(MEFV):c.25C>T (p.Leu9=) rs104895146
NM_000243.2(MEFV):c.265G>A (p.Ala89Thr) rs104895124
NM_000243.2(MEFV):c.277+1G>T
NM_000243.2(MEFV):c.277G>C (p.Glu93Gln) rs138498376
NM_000243.2(MEFV):c.289C>A (p.Gln97Lys) rs747515115
NM_000243.2(MEFV):c.289C>T (p.Gln97Ter) rs747515115
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.311C>G (p.Ser104Cys)
NM_000243.2(MEFV):c.314C>A (p.Ala105Glu) rs387907569
NM_000243.2(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.330G>A (p.Leu110=) rs104895177
NM_000243.2(MEFV):c.332G>A (p.Gly111Glu) rs751454741
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.334_335insG (p.Glu112Glyfs) rs104895109
NM_000243.2(MEFV):c.340A>G (p.Lys114Glu)
NM_000243.2(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.2(MEFV):c.369C>A (p.His123Gln) rs587783379
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.375G>A (p.Glu125=) rs104895142
NM_000243.2(MEFV):c.378G>A (p.Gly126=) rs777867857
NM_000243.2(MEFV):c.383_391dup (p.Asn130_Gly131insGluGlyAsn) rs104895121
NM_000243.2(MEFV):c.407G>A (p.Gly136Glu) rs876660989
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.422G>T (p.Ser141Ile) rs104895130
NM_000243.2(MEFV):c.428G>C (p.Arg143Pro) rs104895190
NM_000243.2(MEFV):c.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.443A>T (p.Glu148Val) rs104895076
NM_000243.2(MEFV):c.453G>C (p.Arg151Ser) rs104895185
NM_000243.2(MEFV):c.460T>C (p.Ser154Pro) rs756975501
NM_000243.2(MEFV):c.462G>A (p.Ser154=) rs1555459437
NM_000243.2(MEFV):c.464G>C (p.Arg155Thr) rs483353017
NM_000243.2(MEFV):c.488A>C (p.Glu163Ala) rs104895106
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000243.2(MEFV):c.515A>C (p.Gln172Pro) rs104895211
NM_000243.2(MEFV):c.524C>A (p.Pro175His) rs104895126
NM_000243.2(MEFV):c.530C>T (p.Thr177Ile) rs104895143
NM_000243.2(MEFV):c.536G>T (p.Ser179Ile) rs104895125
NM_000243.2(MEFV):c.539C>G (p.Pro180Arg) rs104895134
NM_000243.2(MEFV):c.539C>T (p.Pro180Leu) rs104895134
NM_000243.2(MEFV):c.540G>C (p.Pro180=) rs104895139
NM_000243.2(MEFV):c.553G>A (p.Gly185Arg)
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.606_621dup (p.Ser208Alafs) rs104895180
NM_000243.2(MEFV):c.611G>A (p.Arg204His) rs775663363
NM_000243.2(MEFV):c.630G>T (p.Ala210=) rs770830323
NM_000243.2(MEFV):c.651G>C (p.Ala217=) rs886051971
NM_000243.2(MEFV):c.657C>T (p.Gly219=) rs104895182
NM_000243.2(MEFV):c.663G>C (p.Pro221=) rs104895162
NM_000243.2(MEFV):c.66G>A (p.Glu22=) rs569040282
NM_000243.2(MEFV):c.675G>C (p.Glu225Asp) rs104895181
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) rs104895080
NM_000243.2(MEFV):c.688G>C (p.Glu230Gln) rs104895080
NM_000243.2(MEFV):c.694T>C (p.Tyr232His) rs104895205
NM_000243.2(MEFV):c.707G>T (p.Gly236Val) rs104895159
NM_000243.2(MEFV):c.726C>A (p.Ser242Arg) rs104895127
NM_000243.2(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000243.2(MEFV):c.726C>T (p.Ser242=) rs104895127
NM_000243.2(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.2(MEFV):c.761_764dup (p.Asn256Argfs) rs104895138
NM_000243.2(MEFV):c.766A>G (p.Asn256Asp)
NM_000243.2(MEFV):c.775A>G (p.Ile259Val) rs104895144
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.2(MEFV):c.818C>T (p.Ser273Leu) rs483353019
NM_000243.2(MEFV):c.833G>C (p.Arg278Pro) rs104895187
NM_000243.2(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.2(MEFV):c.848C>T (p.Pro283Leu) rs104895119
NM_000243.2(MEFV):c.863C>A (p.Ser288Tyr) rs387907567
NM_000243.2(MEFV):c.866C>A (p.Ala289Glu) rs104895132
NM_000243.2(MEFV):c.866C>T (p.Ala289Val) rs104895132
NM_000243.2(MEFV):c.896A>G (p.Glu299Gly) rs104895167
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.911-22T>G rs104895189
NM_000243.2(MEFV):c.911-78T>C rs11466021
NM_000243.2(MEFV):c.926C>T (p.Thr309Met) rs104895155
NM_000243.2(MEFV):c.941G>A (p.Arg314His) rs104895204
NM_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213
NM_000243.2(MEFV):c.955G>A (p.Glu319Lys) rs104895110
NM_000243.2(MEFV):c.97G>T (p.Val33Leu) rs11466016
NM_000243.2(MEFV):c.983T>C (p.Val328Ala) rs104895203
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000243.2(MEFV):c.[1437C>G;501G>C]
NM_000243.2(MEFV):c.[2084A>G];[2230G>T]
NM_000243.2(MEFV):c.[442G>C;2082G>A]

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