ClinVar Miner

List of variants in gene MEFV reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 183
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HGVS dbSNP
NC_000016.10:g.3243158dup
NC_000016.10:g.3243206G>T
NC_000016.10:g.3243337C>A
NC_000016.10:g.3243337C>T
NC_000016.10:g.3243340T>A
NC_000016.10:g.3243406A>T
NC_000016.10:g.3243592C>G
NC_000016.10:g.3243598G>A
NC_000016.10:g.3243633C>G
NC_000016.10:g.3243646G>A
NC_000016.10:g.3243879A>C
NC_000016.10:g.3244283G>C
NC_000016.10:g.3247140C>T
NC_000016.10:g.3249576A>G
NC_000016.10:g.3254329T>C
NC_000016.10:g.3254479C>G
NC_000016.10:g.3254685T>A
NM_000243.2(MEFV):c.*1029G>C rs142648477
NM_000243.2(MEFV):c.*1080A>G rs568129540
NM_000243.2(MEFV):c.*169C>T rs558576646
NM_000243.2(MEFV):c.*19C>T rs761376734
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.*467_*469del rs746257932
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.*74C>T rs11466050
NM_000243.2(MEFV):c.*761del rs886051967
NM_000243.2(MEFV):c.*779del rs60407399
NM_000243.2(MEFV):c.*818A>C rs886051965
NM_000243.2(MEFV):c.-12C>G rs104895148
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.1048C>T (p.Pro350Ser)
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.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1117C>T (p.Pro373Ser) rs1567234649
NM_000243.2(MEFV):c.1129C>T (p.Arg377Cys) rs896909303
NM_000243.2(MEFV):c.1131C>T (p.Arg377=) rs149941578
NM_000243.2(MEFV):c.1151T>C (p.Leu384Pro)
NM_000243.2(MEFV):c.1173T>C (p.Asp391=) rs146077729
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.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1267A>G (p.Ile423Val) rs104895149
NM_000243.2(MEFV):c.1297C>G (p.Leu433Val)
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.1432C>T (p.His478Tyr) rs104895105
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.1455G>A (p.Glu485=) rs958054431
NM_000243.2(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.2(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
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.1522C>T (p.Leu508=) rs199937453
NM_000243.2(MEFV):c.1527C>T (p.Leu509=) rs571832030
NM_000243.2(MEFV):c.1532C>T (p.Ala511Val)
NM_000243.2(MEFV):c.1541G>A (p.Gly514Glu) rs104895168
NM_000243.2(MEFV):c.1587+5G>A rs1555458661
NM_000243.2(MEFV):c.1587+5G>T rs1555458661
NM_000243.2(MEFV):c.1643C>A (p.Thr548Asn) rs550970304
NM_000243.2(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.2(MEFV):c.1735C>T (p.Arg579Cys)
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.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1784C>T (p.Ala595Val) rs104895191
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.1894G>A (p.Gly632Ser) rs104895128
NM_000243.2(MEFV):c.1898C>T (p.Pro633Leu) rs976279218
NM_000243.2(MEFV):c.1910A>G (p.Asp637Gly) rs387907568
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.1967A>C (p.Glu656Ala) rs104895086
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.2040G>A (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2042C>T (p.Thr681Ile) rs104895090
NM_000243.2(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.2(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.2(MEFV):c.2074_2076delinsGTG (p.Ile692Val)
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.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.2105C>G (p.Ser702Cys) rs104895166
NM_000243.2(MEFV):c.2110G>A (p.Val704Ile) rs104895096
NM_000243.2(MEFV):c.2123G>A (p.Arg708His)
NM_000243.2(MEFV):c.2146A>G (p.Lys716Glu) rs746092199
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.2229C>G (p.Phe743Leu) rs104895152
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.2305C>G (p.Pro769Ala) rs387907565
NM_000243.2(MEFV):c.2314A>G (p.Ile772Val) rs104895163
NM_000243.2(MEFV):c.2327G>C (p.Gly776Ala)
NM_000243.2(MEFV):c.2338C>A (p.Pro780Thr) rs104895154
NM_000243.2(MEFV):c.250G>A (p.Glu84Lys) rs150819742
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.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.311C>G (p.Ser104Cys) rs151306047
NM_000243.2(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.2(MEFV):c.340A>G (p.Lys114Glu) rs1252844849
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.407G>A (p.Gly136Glu) rs876660989
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.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.460T>C (p.Ser154Pro) rs756975501
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.530C>T (p.Thr177Ile) rs104895143
NM_000243.2(MEFV):c.536G>A (p.Ser179Asn)
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.549G>A (p.Pro183=) rs587781035
NM_000243.2(MEFV):c.553G>A (p.Gly185Arg) rs1266566289
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.575G>C (p.Arg192Thr)
NM_000243.2(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.2(MEFV):c.586G>C (p.Gly196Arg)
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.611G>A (p.Arg204His) rs775663363
NM_000243.2(MEFV):c.651G>C (p.Ala217=) rs886051971
NM_000243.2(MEFV):c.66G>A (p.Glu22=) rs569040282
NM_000243.2(MEFV):c.682C>T (p.Pro228Ser)
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.726C>G (p.Ser242Arg) rs104895127
NM_000243.2(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.2(MEFV):c.766A>G (p.Asn256Asp) rs1567237118
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.836C>T (p.Ala279Val)
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.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.963C>A (p.Asp321Glu)
NM_000243.2(MEFV):c.97G>T (p.Val33Leu) rs11466016
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000243.3(MEFV):c.357G>C (p.Lys119Asn)
NM_001198536.1(MEFV):c.*280_*282del rs104895093
NM_001198536.1(MEFV):c.*282_*284TGA[1] rs104895091
NM_001198536.1(MEFV):c.*534_*535del rs753946287
NM_001198536.1(MEFV):c.277+1617AGGGGAACG[3] rs104895121
NM_001198536.1(MEFV):c.277+2004_277+2007dup rs104895138

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