ClinVar Miner

List of variants studied for Glucocorticoid deficiency 4 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_182977.3(NNT):c.1098+17T>C rs16873430 0.01000
NM_182977.3(NNT):c.1575dup (p.Pro526fs) rs1739624229
NM_182977.3(NNT):c.80G>A (p.Arg27His) rs34241095

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