ClinVar Miner

List of variants reported as pathogenic for adrenocortical insufficiency by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	rs7755898	0.00339
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)	rs121918548	0.00007
NM_000529.2(MC2R):c.459dup (p.Ile154fs)	rs1555619430

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