ClinVar Miner

List of variants studied for ACTH-independent macronodular adrenal hyperplasia 2 by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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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.1643T>C (p.Leu548Pro) rs587777661
NM_001105247.2(ARMC5):c.170del (p.Gly57fs) rs951869246
NM_001105247.2(ARMC5):c.2436del (p.Cys813fs) rs2142580488
NM_001105247.2(ARMC5):c.256C>T (p.Gln86Ter) rs587777660
NM_001105247.2(ARMC5):c.2692C>T (p.Arg898Trp) rs587777659

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