ClinVar Miner

List of variants in gene ARMC5, LOC130058906 studied for Cushing syndrome due to macronodular adrenal hyperplasia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001105247.2(ARMC5):c.466C>T (p.Leu156Phe) rs114930262 0.00704
NM_001105247.2(ARMC5):c.256C>T (p.Gln86Ter) rs587777660
NM_001105247.2(ARMC5):c.283_286del (p.Ser95fs) rs2142562239
NM_001105247.2(ARMC5):c.337_338dup (p.Val114fs)

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