ClinVar Miner

List of variants reported as likely pathogenic for Familial Mediterranean fever

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
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.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.2(MEFV):c.[2084A>G];[2230G>T]
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs) rs751375381
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) rs1355225244
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138

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