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: 115
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HGVS dbSNP
NC_000016.10:g.3247552del
NM_000243.2(MEFV):c.-15C>G rs11466015
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.1066C>G (p.Gln356Glu) rs377754606
NM_000243.2(MEFV):c.1089C>T (p.Ser363=) rs104895170
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1171G>A (p.Asp391Asn) rs764274816
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1260+18G>A rs104895136
NM_000243.2(MEFV):c.1261-11T>G rs77086855
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.1341G>C (p.Lys447Asn) rs756322372
NM_000243.2(MEFV):c.1356+12G>C rs587781036
NM_000243.2(MEFV):c.1356+267C>T
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1382G>A (p.Arg461Gln) rs145637617
NM_000243.2(MEFV):c.1440dup (p.Val481fs) rs1085307581
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.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1611-134G>C
NM_000243.2(MEFV):c.1611-343T>G
NM_000243.2(MEFV):c.1611-90C>T
NM_000243.2(MEFV):c.1727-16C>G
NM_000243.2(MEFV):c.1759+18G>A rs1448820200
NM_000243.2(MEFV):c.1759+1G>A rs876660996
NM_000243.2(MEFV):c.1759+8C>T rs77380520
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.1764A>G (p.Pro588=) rs1231122
NM_000243.2(MEFV):c.1767G>A (p.Glu589=) rs879254216
NM_000243.2(MEFV):c.1770G>A (p.Leu590=)
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1793-16C>G rs747964292
NM_000243.2(MEFV):c.1795A>G (p.Asn599Asp) rs104895210
NM_000243.2(MEFV):c.1827C>G (p.Pro609=) rs104895135
NM_000243.2(MEFV):c.1873A>C (p.Lys625Gln) rs773281678
NM_000243.2(MEFV):c.1886dup (p.Pro630fs) rs876660997
NM_000243.2(MEFV):c.18T>A (p.Ser6Arg) rs772221366
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.2033G>A (p.Gly678Glu) rs104895088
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.2040G>T (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2080_2082delinsGTA (p.Met694Val) rs1555458284
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2103G>A (p.Ala701=) rs104895095
NM_000243.2(MEFV):c.2141C>T (p.Pro714Leu) rs758628487
NM_000243.2(MEFV):c.2146A>G (p.Lys716Glu) rs746092199
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2227T>C (p.Phe743Leu) rs876661026
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.2292G>T (p.Gly764=) rs142352887
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.233A>G (p.Asn78Ser) rs145015653
NM_000243.2(MEFV):c.233A>T (p.Asn78Ile) rs145015653
NM_000243.2(MEFV):c.277+13A>G rs879253897
NM_000243.2(MEFV):c.277+6C>T rs7199464
NM_000243.2(MEFV):c.282T>G (p.Tyr94Ter) rs762535762
NM_000243.2(MEFV):c.307G>C (p.Asp103His) rs757543348
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.343C>A (p.Pro115Thr) rs147557169
NM_000243.2(MEFV):c.365A>G (p.Asp122Gly) rs876660988
NM_000243.2(MEFV):c.374_382AGGGGAACG[3] (p.125_127EGN[3]) rs104895121
NM_000243.2(MEFV):c.401C>A (p.Pro134Gln) rs377250147
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.414A>T (p.Gly138=)
NM_000243.2(MEFV):c.427_442dup (p.Glu148fs) rs876660992
NM_000243.2(MEFV):c.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.436C>T (p.Gln146Ter) rs876660990
NM_000243.2(MEFV):c.439C>G (p.Pro147Ala) rs876660991
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.460T>C (p.Ser154Pro) rs756975501
NM_000243.2(MEFV):c.487G>C (p.Glu163Gln) rs759918824
NM_000243.2(MEFV):c.489G>T (p.Glu163Asp) rs759997694
NM_000243.2(MEFV):c.511G>A (p.Ala171Thr) rs876660993
NM_000243.2(MEFV):c.515A>C (p.Gln172Pro) rs104895211
NM_000243.2(MEFV):c.532C>T (p.Arg178Trp) rs1555459404
NM_000243.2(MEFV):c.540G>C (p.Pro180=) rs104895139
NM_000243.2(MEFV):c.547C>A (p.Pro183Thr) rs202196752
NM_000243.2(MEFV):c.549G>A (p.Pro183=) rs587781035
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.577G>A (p.Ala193Thr) rs876660994
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.663G>C (p.Pro221=) rs104895162
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) rs104895080
NM_000243.2(MEFV):c.796A>G (p.Lys266Glu) rs755178462
NM_000243.2(MEFV):c.818C>T (p.Ser273Leu) rs483353019
NM_000243.2(MEFV):c.819G>A (p.Ser273=) rs962267537
NM_000243.2(MEFV):c.826G>T (p.Glu276Ter) rs876660995
NM_000243.2(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.926C>T (p.Thr309Met) rs104895155
NM_000243.2(MEFV):c.932C>T (p.Ala311Val) rs74346519
NM_000243.2(MEFV):c.941_942delinsAT (p.Arg314His) rs1085307824
NM_000243.2(MEFV):c.959G>C (p.Gly320Ala) rs374412819
NM_000243.2(MEFV):c.97G>T (p.Val33Leu) rs11466016
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000243.2:c.-330G>A
NM_000243.2:c.1587+33C>G
NM_000243.2:c.911-12G>A
NM_001198536.1(MEFV):c.*280_*282del rs104895093

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