ClinVar Miner

List of variants reported as likely pathogenic for adrenocortical insufficiency by Illumina Laboratory Services, Illumina

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_001395413.1(POR):c.1354del (p.Gln452fs)	rs781805159	0.00002
NM_000529.2(MC2R):c.437G>A (p.Arg146His)	rs758709668	0.00001
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)	rs770214071

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