ClinVar Miner

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

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs) rs770214071

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