List of variants in gene STAT5B studied for Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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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.551-5T>C	rs200299299	0.00188
NM_012448.4(STAT5B):c.1666T>A (p.Ser556Thr)	rs777627496	0.00010
NM_012448.4(STAT5B):c.2353G>A (p.Ala785Thr)	rs760771231	0.00003
NM_012448.4(STAT5B):c.550+7C>T	rs771507023	0.00003
NM_012448.4(STAT5B):c.863A>T (p.Gln288Leu)

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