ClinVar Miner

List of variants studied for Pituitary dependent hypercortisolism by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) rs672601306
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311

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