ClinVar Miner

Variants in gene MCCC2 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: 5
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1574+37C>G rs138725621 0.01241
NM_022132.5(MCCC2):c.282-7G>A rs115078899 0.00399
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577 0.00003
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001

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