ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
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.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.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn) rs764274816 0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) rs199937453 0.00011
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 0.00010
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.574A>G (p.Arg192Gly) rs745839954 0.00003
NM_000243.3(MEFV):c.1234A>G (p.Ile412Val) rs1434076108 0.00002
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg) rs201766654 0.00002
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.1089C>A (p.Ser363Arg)
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1519G>A (p.Ala507Thr)
NM_000243.3(MEFV):c.1531G>A (p.Ala511Thr)
NM_000243.3(MEFV):c.1588-3T>A
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
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.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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