ClinVar Miner

List of variants reported as pathogenic for Growth hormone insensitivity with immune dysregulation 1, autosomal recessive by Hwa Lab, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_012448.4(STAT5B):c.1421A>G (p.Gln474Arg) rs1555548680

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