ClinVar Miner

List of variants in gene MEFV reported as not provided by Unité médicale des maladies autoinflammatoires, CHRU Montpellier

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP
NM_000243.2(MEFV):c.*12T>C rs104895183
NM_000243.2(MEFV):c.*21C>G rs104895200
NM_000243.2(MEFV):c.-12C>G rs104895148
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.1089C>T (p.Ser363=) rs104895170
NM_000243.2(MEFV):c.1091C>T (p.Pro364Leu) rs104895214
NM_000243.2(MEFV):c.1147C>A (p.Gln383Lys) rs104895188
NM_000243.2(MEFV):c.1179C>T (p.Pro393=) rs104895082
NM_000243.2(MEFV):c.1245C>T (p.Val415=) rs104895195
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.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1405G>T (p.Val469Leu) rs104895173
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.1432C>T (p.His478Tyr) rs104895105
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.1459G>A (p.Val487Met) 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.1516A>G (p.Ile506Val) rs104895186
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
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.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.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.1776C>T (p.Gly592=) rs104895161
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.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.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.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.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.2042C>T (p.Thr681Ile) rs104895090
NM_000243.2(MEFV):c.2049G>A (p.Ser683=) rs104895092
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.2079G>C (p.Met693Ile) rs104895215
NM_000243.2(MEFV):c.2080A>T (p.Met694Leu) rs61752717
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.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.2164G>A (p.Val722Met) rs104895201
NM_000243.2(MEFV):c.2169C>T (p.Asp723=) rs104895117
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.2314A>G (p.Ile772Val) rs104895163
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.25C>T (p.Leu9=) rs104895146
NM_000243.2(MEFV):c.265G>A (p.Ala89Thr) rs104895124
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.2(MEFV):c.330G>A (p.Leu110=) rs104895177
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.334dup (p.Glu112fs) rs104895109
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.374_382AGGGGAACG[3] (p.125_127EGN[3]) rs104895121
NM_000243.2(MEFV):c.375G>A (p.Glu125=) rs104895142
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.443A>T (p.Glu148Val) rs104895076
NM_000243.2(MEFV):c.453G>C (p.Arg151Ser) rs104895185
NM_000243.2(MEFV):c.488A>C (p.Glu163Ala) rs104895106
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.540G>C (p.Pro180=) rs104895139
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.606_621dup (p.Ser208fs) rs104895180
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.675G>C (p.Glu225Asp) rs104895181
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) 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.Asn256fs) rs104895138
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.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.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.955G>A (p.Glu319Lys) rs104895110
NM_000243.2(MEFV):c.983T>C (p.Val328Ala) rs104895203
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_001198536.1(MEFV):c.*280_*282del rs104895093
NM_001198536.1(MEFV):c.*282_*284TGA[1] rs104895091

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