ClinVar Miner

List of variants in gene MVK reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00034
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_000431.4(MVK):c.1128C>T (p.Gly376=) rs147662789 0.00023
NM_000431.4(MVK):c.527+10G>A rs368909134 0.00006
NM_000431.4(MVK):c.855C>T (p.Ala285=) rs550696805 0.00006
NM_000431.4(MVK):c.371+9G>A rs551460898 0.00001
NM_000431.4(MVK):c.519C>T (p.Cys173=) rs554487221 0.00001
NM_000431.4(MVK):c.450G>C (p.Ser150=) rs201123232

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