ClinVar Miner

List of variants reported as pathogenic for Cushing syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000244.3(MEN1):c.211_212del (p.Pro71fs) rs386134251
NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) rs386134256
NM_000546.5(TP53):c.375G>A (p.Thr125=) rs55863639
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708

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