ClinVar Miner

List of variants reported as pathogenic for adrenocortical insufficiency by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln) rs149881706 0.00002
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471

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