ClinVar Miner

List of variants reported as pathogenic for Cushing syndrome due to macronodular adrenal hyperplasia by Molecular Medicine Laboratory, University of Brescia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001105247.2(ARMC5):c.174dup (p.Glu59fs) rs2142561742
NM_001105247.2(ARMC5):c.2025del (p.Leu676fs) rs2142578942
NM_001105247.2(ARMC5):c.283_286del (p.Ser95fs) rs2142562239

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