ClinVar Miner

List of variants studied for adrenogenital syndrome by Department of Pediatric Endocrinology, Cukurova University Medical Faculty

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.20dup (p.Leu8fs) rs1582298980
NM_000500.9(CYP21A2):c.254del (p.Lys85fs) rs1582300748
NM_000500.9(CYP21A2):c.958GAG[1] (p.Glu321del) rs1582309414

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