ClinVar Miner

List of variants in gene MEFV reported as uncertain significance for Familial Mediterranean fever

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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP
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_*469delTTG 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.*761delC rs886051967
NM_000243.2(MEFV):c.*779delT rs60407399
NM_000243.2(MEFV):c.*818A>C rs886051965
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.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.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.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1297C>G (p.Leu433Val)
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.1406T>C (p.Val469Ala) rs778686119
NM_000243.2(MEFV):c.1455G>A (p.Glu485=)
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.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.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.1795A>G (p.Asn599Asp) rs104895210
NM_000243.2(MEFV):c.1803T>A (p.Ile601=) rs779572391
NM_000243.2(MEFV):c.1898C>T (p.Pro633Leu) rs976279218
NM_000243.2(MEFV):c.2074_2076delinsGTG (p.Ile692Val)
NM_000243.2(MEFV):c.2123G>A (p.Arg708His)
NM_000243.2(MEFV):c.2146A>G (p.Lys716Glu) rs746092199
NM_000243.2(MEFV):c.2160C>G (p.Ile720Met) rs104895102
NM_000243.2(MEFV):c.2327G>C (p.Gly776Ala)
NM_000243.2(MEFV):c.2330_2331del (p.Gly777fs) rs753946287
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)
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.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.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.536G>A (p.Ser179Asn)
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.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.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.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.941G>A (p.Arg314His) rs104895204
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

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