ClinVar Miner

List of variants studied for primary adrenal insufficiency by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter) rs121918547 0.00001
NM_000475.5(NR0B1):c.1267del (p.His423fs) rs1569268048
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) rs104894061
NM_015665.5(AAAS):c.936_937delAG rs1592513048

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