ClinVar Miner

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

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000546.5(TP53):c.375G>A (p.Thr125=) rs55863639
NM_000546.5(TP53):c.455C>T (p.Pro152Leu) rs587782705
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.5(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_002734.3(PRKAR1A):c.623delG (p.Gly208Glufs) rs727503379
NM_130799.2(MEN1):c.249_252delGTCT (p.Ile85Serfs) rs587776841
NM_130799.2(MEN1):c.307delC (p.Leu103Cysfs) rs794728639

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