ClinVar Miner

List of variants reported for Congenital adrenal hypoplasia, X-linked by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000475.5(NR0B1):c.129C>A (p.Cys43Ter) rs2519052156
NM_000475.5(NR0B1):c.617del (p.His206fs) rs2519051412
NM_000475.5(NR0B1):c.881T>C (p.Leu294Pro) rs2147006470

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