ClinVar Miner

List of variants in gene MEFV reported as pathogenic by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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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.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter) rs886082025 0.00004
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874

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