ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001128610.3(USP8):c.2152_2154TCC[1] (p.Ser719del) rs672601306
NM_001128610.3(USP8):c.2153C>G (p.Ser718Cys) rs672601308
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_005154.3(USP8):c.[2138T>G;2150A>G]
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311

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