ClinVar Miner

List of variants studied for primary adrenal insufficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr) rs201913959 0.00036
NM_006440.5(TXNRD2):c.591+1G>C rs200610775 0.00016
NM_006440.5(TXNRD2):c.417del (p.Asn140fs) rs780054798 0.00002

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