ClinVar Miner

List of variants reported as likely pathogenic for Cushing syndrome due to macronodular adrenal hyperplasia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001105247.2(ARMC5):c.1787T>G (p.Leu596Arg) rs2082338123 0.00001
NM_001105247.2(ARMC5):c.1724_1753delinsAT (p.Cys575fs) rs2142575218
NM_001105247.2(ARMC5):c.1767_1771dup (p.Leu591fs) rs1596605496
NM_001105247.2(ARMC5):c.2432G>C (p.Arg811Pro) rs181967284
NM_001105247.2(ARMC5):c.968G>A (p.Gly323Asp) rs35461188

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