ClinVar Miner

List of variants reported as likely pathogenic for adrenocortical insufficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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.1174G>A (p.Ala392Thr)	rs202242769	0.00567
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)	rs766043032	0.00001
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)	rs2519052283

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