List of variants reported as benign for Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012448.4(STAT5B):c.1101C>A (p.Pro367=)	rs61749920	0.02543
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.247C>T (p.Leu83=)	rs146176992	0.00415
NM_012448.4(STAT5B):c.2077+12C>T	rs80293897	0.00362
NM_012448.4(STAT5B):c.285+12C>T	rs138605388	0.00297
NM_012448.4(STAT5B):c.690C>T (p.Ala230=)	rs555155085	0.00268
NM_012448.4(STAT5B):c.1335A>G (p.Glu445=)	rs111880437	0.00232
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.376-15C>G	rs201981865	0.00129
NM_012448.4(STAT5B):c.1569G>A (p.Arg523=)	rs143172354	0.00034
NM_012448.4(STAT5B):c.1725C>T (p.Asp575=)	rs75130700	0.00025
NM_012448.4(STAT5B):c.944A>C (p.Glu315Ala)	rs572536541	0.00012
NM_012448.4(STAT5B):c.162C>T (p.Asn54=)	rs201916641	0.00005
NM_012448.4(STAT5B):c.171C>T (p.Ala57=)	rs200136266	0.00004
NM_012448.4(STAT5B):c.1257+11A>C
NM_012448.4(STAT5B):c.2078-9C>T

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.