ClinVar Miner

List of variants in gene MEFV reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys) rs747515115

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