ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012448.4(STAT5B):c.1433C>T (p.Ala478Val) rs1555548678 0.00001
NC_000017.10:g.(?_40371710)_(40371880_?)del
NM_012448.4(STAT5B):c.1009C>T (p.Gln337Ter) rs2080191165
NM_012448.4(STAT5B):c.1102del (p.Gln368fs) rs761761205
NM_012448.4(STAT5B):c.1102dup (p.Gln368fs) rs761761205
NM_012448.4(STAT5B):c.1191dup (p.Asn398fs)
NM_012448.4(STAT5B):c.1213_1229del (p.Tyr405fs)
NM_012448.4(STAT5B):c.121C>T (p.Gln41Ter) rs767959957
NM_012448.4(STAT5B):c.1421A>G (p.Gln474Arg) rs1555548680
NM_012448.4(STAT5B):c.1680+1del
NM_012448.4(STAT5B):c.16C>T (p.Gln6Ter)
NM_012448.4(STAT5B):c.1718G>A (p.Trp573Ter) rs2144219508
NM_012448.4(STAT5B):c.1749del (p.Lys583fs)
NM_012448.4(STAT5B):c.1888G>C (p.Ala630Pro) rs121908501
NM_012448.4(STAT5B):c.1906C>T (p.Gln636Ter)
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His) rs938448224
NM_012448.4(STAT5B):c.2065G>T (p.Glu689Ter) rs778995803
NM_012448.4(STAT5B):c.303C>A (p.Cys101Ter)
NM_012448.4(STAT5B):c.415C>T (p.Gln139Ter)
NM_012448.4(STAT5B):c.424_427del (p.Leu142fs) rs2144267361
NM_012448.4(STAT5B):c.454C>T (p.Arg152Ter) rs121908502
NM_012448.4(STAT5B):c.530A>C (p.Gln177Pro) rs1555549674
NM_012448.4(STAT5B):c.89_90dup (p.Arg31fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.