ClinVar Miner

List of variants reported as uncertain significance for primary adrenal insufficiency by Genome-Nilou Lab

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_000349.3(STAR):c.481G>A (p.Gly161Arg) rs188044385 0.00103
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035

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