ClinVar Miner

List of variants reported as pathogenic for adrenocortical insufficiency by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (20):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)	rs9378251	0.00055
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)	rs121918549	0.00003
NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter)	rs1214983921	0.00001

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