ClinVar Miner

List of variants in gene MEFV reported as pathogenic

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Gene type:
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Total variants: 32
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HGVS dbSNP
NM_000243.2(MEFV):c.1099C>G (p.Leu367Val) rs1057519328
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1211A>G (p.His404Arg) rs755659290
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.2(MEFV):c.1759+1G>A rs876660996
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.2(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.2(MEFV):c.2076_2078delAAT (p.Ile692del) rs104895093
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2080_2082delATGinsGTA (p.Met694Val) rs1555458284
NM_000243.2(MEFV):c.2081_2083delTGA (p.Met694del) rs104895091
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.250G>A (p.Glu84Lys)
NM_000243.2(MEFV):c.332G>A (p.Gly111Glu) rs751454741
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.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.826G>T (p.Glu276Ter) rs876660995
NM_000243.2(MEFV):c.[1437C>G;501G>C]
NM_000243.2(MEFV):c.[442G>C;2082G>A]

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