ClinVar Miner

List of variants reported as pathogenic for Familial Mediterranean fever by Hadassah Hebrew University Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
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.1437C>G (p.Phe479Leu) rs104895083

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