ClinVar Miner

List of variants reported as likely pathogenic by Department of Pediatric Endocrinology, Cukurova University Medical Faculty

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Total variants: 4
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HGVS dbSNP
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
NM_000901.5(NR3C2):c.2657T>G (p.Leu886Arg) rs1560928649

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