ClinVar Miner

List of variants reported as likely pathogenic for adrenocortical insufficiency by Molecular Endocrinology Laboratory, Christian Medical College

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) rs200005406 0.00039
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434 0.00002
NM_000497.4(CYP11B1):c.1200+1del rs2130267209
NM_000497.4(CYP11B1):c.1201-1G>A rs1437397442
NM_000500.9(CYP21A2):c.1042G>A (p.Ala348Thr) rs2151875295
NM_000500.9(CYP21A2):c.1274G>T (p.Gly425Val) rs2151876633

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