ClinVar Miner

List of variants in gene MVK reported as uncertain significance by GeneDx

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439 0.00011
NM_000431.4(MVK):c.361C>T (p.Arg121Trp) rs368026034 0.00009
NM_000431.4(MVK):c.32C>T (p.Pro11Leu) rs876661001 0.00006
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342 0.00005
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) rs145586352 0.00004
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) rs371511147 0.00003
NM_000431.4(MVK):c.380C>T (p.Pro127Leu) rs775474803 0.00003
NM_000431.4(MVK):c.197G>A (p.Arg66Lys) rs757565098 0.00001
NM_000431.4(MVK):c.78G>A (p.Lys26=) rs764748327 0.00001
NM_000431.4(MVK):c.819G>A (p.Leu273=) rs876661134 0.00001
NM_000431.4(MVK):c.227-18T>C rs876661049
NM_000431.4(MVK):c.498C>A (p.Asn166Lys) rs765975337
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) rs1267793765
NM_000431.4(MVK):c.718C>T (p.Pro240Ser) rs758952837
NM_000431.4(MVK):c.832G>A (p.Val278Met) rs574045811

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