List of variants reported as uncertain significance for combined pituitary hormone deficiencies, genetic form by Department of Pathology and Laboratory Medicine, Sinai Health System

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017619.4(RNPC3):c.1024A>C (p.Asn342His)	rs186426068	0.00089
NM_017619.4(RNPC3):c.1025A>C (p.Asn342Thr)	rs191143343	0.00089
NM_005634.3(SOX3):c.946G>A (p.Gly316Ser)	rs374950908	0.00019
NM_178138.6(LHX3):c.79+1935C>G	rs769912904	0.00016
NM_000515.5(GH1):c.350A>G (p.Gln117Arg)	rs142396035	0.00002
NM_000306.4(POU1F1):c.365T>C (p.Ile122Thr)
NM_005634.3(SOX3):c.331G>A (p.Ala111Thr)
NM_005634.3(SOX3):c.729_731dup (p.Ala248dup)	rs763403187
NM_006261.5(PROP1):c.276G>C (p.Gln92His)
NM_006261.5(PROP1):c.379C>A (p.Gln127Lys)
NM_006261.5(PROP1):c.472G>A (p.Ala158Thr)
NM_017619.4(RNPC3):c.344C>T (p.Ser115Phe)

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.