ClinVar Miner

List of variants in gene MEFV reported as uncertain significance by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 55
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HGVS dbSNP
NM_000243.2(MEFV):c.1016C>T (p.Ser339Phe) rs104895157
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.116G>A (p.Arg39Lys) rs141288548
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) 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.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1368A>C (p.Glu456Asp)
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.1406T>C (p.Val469Ala) rs778686119
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1587+7G>A rs375555497
NM_000243.2(MEFV):c.1622T>C (p.Val541Ala) rs922232615
NM_000243.2(MEFV):c.1643C>A (p.Thr548Asn)
NM_000243.2(MEFV):c.1759+7C>T
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1957C>T (p.Arg653Cys) rs375716505
NM_000243.2(MEFV):c.195C>T (p.Tyr65=) rs104895077
NM_000243.2(MEFV):c.198C>T (p.Ala66=) rs149380763
NM_000243.2(MEFV):c.2122C>T (p.Arg708Cys) rs104895202
NM_000243.2(MEFV):c.2160C>G (p.Ile720Met) rs104895102
NM_000243.2(MEFV):c.2169C>T (p.Asp723=) rs104895117
NM_000243.2(MEFV):c.2253C>G (p.Pro751=)
NM_000243.2(MEFV):c.2271C>T (p.Ser757=) rs772754956
NM_000243.2(MEFV):c.239G>A (p.Arg80His)
NM_000243.2(MEFV):c.277+16C>A
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.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.359C>T (p.Thr120Ile) rs772698222
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.436C>T (p.Gln146Ter) rs876660990
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.501G>C (p.Glu167Asp) rs104895079
NM_000243.2(MEFV):c.564C>G (p.Pro188=)
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.621C>T (p.Ala207=) rs767667206
NM_000243.2(MEFV):c.657C>T (p.Gly219=) rs104895182
NM_000243.2(MEFV):c.679A>G (p.Arg227Gly)
NM_000243.2(MEFV):c.775A>G (p.Ile259Val) rs104895144
NM_000243.2(MEFV):c.787C>G (p.Leu263Val)
NM_000243.2(MEFV):c.809A>G (p.Asn270Ser)
NM_000243.2(MEFV):c.910+4A>G
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.911-12G>A
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.97G>T (p.Val33Leu) rs11466016
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112

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