ClinVar Miner

List of variants studied for Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012448.4(STAT5B):c.993G>A (p.Thr331=) rs59491077 0.01527
NM_012448.4(STAT5B):c.2237+15T>C rs113762956 0.01303
NM_012448.4(STAT5B):c.375+17G>A rs148509105 0.00198
NM_012448.4(STAT5B):c.1666T>A (p.Ser556Thr) rs777627496 0.00010

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