ClinVar Miner

List of variants in gene MEFV reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_000243.3(MEFV):c.1356+44A>G rs224212 0.59650
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.59561
NM_000243.3(MEFV):c.1428A>G (p.Gln476=) rs224207 0.58038
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000243.3(MEFV):c.1610+96C>T rs224204 0.46165
NM_000243.3(MEFV):c.1588-69G>A rs224205 0.46073
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000243.3(MEFV):c.1261-11T>G rs77086855 0.00875
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_000243.3(MEFV):c.1356+31G>T rs142775938 0.00459
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000243.3(MEFV):c.-15C>G rs11466015 0.00306
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_000243.3(MEFV):c.1610+21G>A rs113925050 0.00173
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) rs61754767 0.00121
NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln) rs145637617 0.00076
NM_000243.3(MEFV):c.277+6C>T rs7199464 0.00071
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
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.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn) rs764274816 0.00011
NM_000243.3(MEFV):c.1458C>T (p.Asp486=) rs147767925 0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) rs199937453 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000243.3(MEFV):c.198C>T (p.Ala66=) rs149380763 0.00009
NM_000243.3(MEFV):c.1610+8G>A rs765410591 0.00006
NM_000243.3(MEFV):c.549G>A (p.Pro183=) rs587781035 0.00006
NM_000243.3(MEFV):c.-13C>G rs200991336 0.00005
NM_000243.3(MEFV):c.1587+7G>A rs375555497 0.00004
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter) rs768473920 0.00004
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln) rs138498376 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.948C>T (p.His316=) rs150252937 0.00004
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly) rs745839954 0.00003
NM_000243.3(MEFV):c.1234A>G (p.Ile412Val) rs1434076108 0.00002
NM_000243.3(MEFV):c.1611-33G>A rs557544409 0.00002
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg) rs201766654 0.00002
NM_000243.3(MEFV):c.2166G>A (p.Val722=) rs762351424 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln) rs1306636942 0.00001
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile) rs104895143 0.00001
NM_000243.3(MEFV):c.786T>C (p.Thr262=) rs575521131 0.00001
NM_000243.2(MEFV):c.[1437C>G;501G>C]
NM_000243.3(MEFV):c.1089C>A (p.Ser363Arg)
NM_000243.3(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1260+17T>C rs1357578983
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1417C>T (p.Leu473=)
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1461G>T (p.Val487=) rs1370559441
NM_000243.3(MEFV):c.1519G>A (p.Ala507Thr)
NM_000243.3(MEFV):c.1531G>A (p.Ala511Thr)
NM_000243.3(MEFV):c.1536G>A (p.Leu512=)
NM_000243.3(MEFV):c.1588-12T>A
NM_000243.3(MEFV):c.1588-3T>A
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.2271C>T (p.Ser757=) rs772754956
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.3(MEFV):c.414A>T (p.Gly138=) rs224224
NM_000243.3(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.585G>C (p.Glu195Asp) rs200766991
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.590G>A (p.Gly197Asp)
NM_000243.3(MEFV):c.641A>C (p.Gln214Pro) rs1596358209
NM_000243.3(MEFV):c.74A>C (p.Lys25Thr)
NM_000243.3(MEFV):c.758C>A (p.Ala253Glu) rs768336098
NM_000243.3(MEFV):c.928G>A (p.Ala310Thr)

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