ClinVar Miner

List of variants in gene combination LOC126862264, MEFV reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.1764= (p.Pro588=) rs1231122 0.59264
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_000243.3(MEFV):c.1727-61A>G rs11466042 0.00618
NM_000243.3(MEFV):c.1760-97G>A rs11466044 0.00589
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00459
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00032
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000243.3(MEFV):c.1770G>A (p.Leu590=) rs139692347 0.00017
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00008
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00007
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00007
NM_000243.3(MEFV):c.1793-16C>G rs747964292 0.00006
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu) rs202174893 0.00004
NM_000243.3(MEFV):c.1779T>A (p.Ala593=) rs377657099 0.00003
NM_000243.3(MEFV):c.1886dup (p.Pro630fs) rs876660997 0.00003
NM_000243.3(MEFV):c.2103G>A (p.Ala701=) rs104895095 0.00003
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys) rs762605919 0.00002
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu) rs104895088 0.00002
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu) rs746092199 0.00002
NM_000243.3(MEFV):c.1727-16C>G rs369343700 0.00001
NM_000243.3(MEFV):c.1759+18G>A rs1448820200 0.00001
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val) rs104895191 0.00001
NM_000243.3(MEFV):c.2045dup (p.Ser683fs) rs1242998026 0.00001
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570 0.00001
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu) rs758628487 0.00001
NM_000243.3(MEFV):c.1730C>T (p.Thr577Ile) rs1057516210
NM_000243.3(MEFV):c.1736G>A (p.Arg579His) rs574055513
NM_000243.3(MEFV):c.1759+1G>A rs876660996
NM_000243.3(MEFV):c.1759+99del rs3974658
NM_000243.3(MEFV):c.1767G>A (p.Glu589=) rs879254216
NM_000243.3(MEFV):c.1873A>C (p.Lys625Gln) rs773281678
NM_000243.3(MEFV):c.2007C>T (p.Ala669=) rs2141664975
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>T (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2080_2082delinsGTA (p.Met694Val) rs1555458284
NM_000243.3(MEFV):c.2090A>T (p.Asn697Ile) rs2141664836
NM_000243.3(MEFV):c.2140C>T (p.Pro714Ser) rs1958887093
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser) rs104895192

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