ClinVar Miner

List of variants in gene combination MMAB, MVK reported as benign for Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NC_000012.12:g.109573660G>A rs66486014 0.00733

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