ClinVar Miner

List of variants reported as pathogenic for Cushing syndrome by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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NM_000244.3(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_000244.3(MEN1):c.307del (p.Leu103fs) rs794728639
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_001126112.2(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_212472.2(PRKAR1A):c.623del (p.Gly208fs) rs727503379

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