ClinVar Miner

List of variants reported as pathogenic for primary adrenal insufficiency by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (19):

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_000102.4(CYP17A1):c.287G>A (p.Arg96Gln)	rs104894153	0.00001
NM_000500.9(CYP21A2):c.293-13C>G	rs6467

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