ClinVar Miner

Variants in gene MVK with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
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.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.1128C>T (p.Gly376=) rs147662789 0.00023
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996

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