ClinVar Miner

List of variants in gene ARMC5 reported as pathogenic 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: 11
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HGVS dbSNP gnomAD frequency
NM_001105247.2(ARMC5):c.1777C>T (p.Arg593Trp) rs587777662 0.00002
NM_001105247.2(ARMC5):c.799C>T (p.Arg267Ter) rs369721476 0.00001
NM_001105247.2(ARMC5):c.1094T>C (p.Leu365Pro) rs587777663
NM_001105247.2(ARMC5):c.1199_1224dup (p.Ala409fs)
NM_001105247.2(ARMC5):c.1643T>C (p.Leu548Pro) rs587777661
NM_001105247.2(ARMC5):c.170del (p.Gly57fs) rs951869246
NM_001105247.2(ARMC5):c.174dup (p.Glu59fs) rs2142561742
NM_001105247.2(ARMC5):c.2025del (p.Leu676fs) rs2142578942
NM_001105247.2(ARMC5):c.2290C>T (p.Arg764Ter) rs778422149
NM_001105247.2(ARMC5):c.2436del (p.Cys813fs) rs2142580488
NM_001105247.2(ARMC5):c.2692C>T (p.Arg898Trp) rs587777659

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