ClinVar Miner

List of variants in gene MVK reported as likely benign for Hyperimmunoglobulin D with periodic fever

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_000431.4(MVK):c.*90G>A rs142150449 0.00310
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816 0.00003
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001
NM_000431.4(MVK):c.*58dup rs397714540

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