ClinVar Miner

List of variants studied for primary adrenal insufficiency by Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000500.9(CYP21A2):c.651+2T>G rs2151873259
NM_000500.9(CYP21A2):c.833dup (p.Glu279fs) rs2151874375
NM_015665.6(AAAS):c.250del (p.Trp84fs) rs2136820957
NM_015665.6(AAAS):c.399+1G>A rs2136811976
NM_182977.3(NNT):c.2274del (p.Ile758fs) rs2111935997

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