ClinVar Miner

List of variants studied for Familial Mediterranean fever by Mendelics

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Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) rs61754767 0.00121
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val) rs104895151 0.00020
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu) rs376579860 0.00006
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu) rs104895088 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile) rs104895096 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr) rs190405488 0.00002
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr) rs104895124 0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) rs104895110 0.00002
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys) rs104895104 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu) rs104895165 0.00001
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val) rs104895191 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val) rs104895163 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile) rs104895130 0.00001
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile) rs104895143 0.00001
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg) rs765450054 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu) rs104895119 0.00001
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr) rs387907567 0.00001
NM_000243.3(MEFV):c.-12C>G rs104895148
NM_000243.3(MEFV):c.1115T>C (p.Leu372Pro) rs1218172738
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val) rs104895149
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu) rs104895173
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter) rs104895207
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.3(MEFV):c.1463G>A (p.Gly488Asp) rs1596352746
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu) rs104895168
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.3(MEFV):c.1730C>G (p.Thr577Ser) rs1057516210
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met) rs141706767
NM_000243.3(MEFV):c.1841C>T (p.Ser614Phe) rs1332372034
NM_000243.3(MEFV):c.1854G>C (p.Lys618Asn) rs766576175
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala) rs967990798
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly) rs387907568
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala) rs104895086
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn) rs104895087
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile) rs104895090
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu) rs61752717
NM_000243.3(MEFV):c.2081T>A (p.Met694Lys) rs1596350022
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met) rs104895094
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys) rs104895166
NM_000243.3(MEFV):c.2147A>T (p.Lys716Met) rs1596349932
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser) rs104895192
NM_000243.3(MEFV):c.2150G>A (p.Arg717His) rs545517350
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu) rs545517350
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu) rs104895152
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser) rs774807554
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala) rs387907565
NM_000243.3(MEFV):c.2330dup (p.Gln778fs) rs1596349724
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.3(MEFV):c.25C>T (p.Leu9=) rs104895146
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) rs104895121
NM_000243.3(MEFV):c.383A>T (p.Glu128Val) rs201172310
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu) rs876660989
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro) rs104895190
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala) rs104895106
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile) rs104895125
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg) rs104895134
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs) rs104895180
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln) rs104895080
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000243.3(MEFV):c.739A>G (p.Ile247Val) rs1472692347
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138
NM_000243.3(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu) rs104895132
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly) rs104895167

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