ClinVar Miner

List of variants in gene STAT5B reported as likely pathogenic for Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_012448.4(STAT5B):c.1102del (p.Gln368fs)	rs761761205
NM_012448.4(STAT5B):c.1681-2A>G
NM_012448.4(STAT5B):c.1906+1G>A	rs750399917

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