ClinVar Miner

List of variants in gene MVK reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) rs1555279757
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300
NM_000431.4(MVK):c.802A>G (p.Ile268Val) rs759997079
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933

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