ClinVar Miner

List of variants studied for primary adrenal insufficiency by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys) rs183950022 0.00004
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471

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