ClinVar Miner

List of variants in gene MEFV reported as likely benign for Familial Mediterranean fever

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Gene type:
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Total variants: 33
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HGVS dbSNP
NM_000243.2(MEFV):c.*1056G>T rs450021
NM_000243.2(MEFV):c.*133G>A rs2075849
NM_000243.2(MEFV):c.*245G>A rs2741919
NM_000243.2(MEFV):c.*267G>A rs2741918
NM_000243.2(MEFV):c.*466_*468delTTT rs61379197
NM_000243.2(MEFV):c.*474C>G rs11466051
NM_000243.2(MEFV):c.*475A>G rs11466052
NM_000243.2(MEFV):c.*743T>C rs170387
NM_000243.2(MEFV):c.*836_*837insACT rs34895148
NM_000243.2(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1422G>A (p.Glu474=) rs224208
NM_000243.2(MEFV):c.1428A>G (p.Gln476=) rs224207
NM_000243.2(MEFV):c.1459G>C (p.Val487Leu) rs104895100
NM_000243.2(MEFV):c.1530T>C (p.Asp510=) rs224206
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1899G>T (p.Pro633=) rs776315170
NM_000243.2(MEFV):c.195C>T (p.Tyr65=) rs104895077
NM_000243.2(MEFV):c.198C>T (p.Ala66=) rs149380763
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.378G>A (p.Gly126=) rs777867857
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.462G>A (p.Ser154=) rs1555459437
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.630G>T (p.Ala210=) rs770830323
NM_000243.2(MEFV):c.663G>C (p.Pro221=) rs104895162
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213

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