ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_000431.3(MVK):c.421dupG (p.Ala141Glyfs) rs104895323
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382
NM_000431.4(MVK):c.494C>T (p.Pro165Leu) rs121917790
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301
NM_000431.4(MVK):c.630G>A (p.Trp210Ter) rs1593021917
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304

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