ClinVar Miner

List of variants reported as pathogenic for ACTH-independent Cushing syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
ARMC5, 1-BP DEL, G
NM_000516.6(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.6(GNAS):c.601C>A (p.Arg201Ser) rs11554273
NM_000516.6(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.6(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_001029851.3(PDE8B):c.876+4525A>C rs121918360
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.1777C>T (p.Arg593Trp) rs587777662
NM_001105247.2(ARMC5):c.256C>T (p.Gln86Ter) rs587777660
NM_001105247.2(ARMC5):c.2692C>T (p.Arg898Trp) rs587777659
NM_001105247.2(ARMC5):c.799C>T (p.Arg267Ter) rs369721476
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) rs386352352
NM_002730.4(PRKACA):c.597_599dup (p.Cys200_Gly201insTrp) rs724160013
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) rs76308115
NM_212472.2(PRKAR1A):c.-37G>A rs587776773
NM_212472.2(PRKAR1A):c.709-7_709-2del rs281864801
PRKAR1A, 16-BP DEL

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