List of variants in gene combination SLA, TG reported as uncertain significance for Iodotyrosyl coupling defect

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003235.5(TG):c.7539C>T (p.Asp2513=)	rs114539802	0.00564
NM_003235.5(TG):c.7449C>T (p.Ile2483=)	rs115806626	0.00138
NM_003235.5(TG):c.7335A>T (p.Ser2445=)	rs146491847	0.00048
NM_003235.5(TG):c.7364G>A (p.Arg2455His)	rs2272707	0.00031
NM_003235.5(TG):c.7248C>T (p.Ser2416=)	rs774676063	0.00004
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys)	rs201444172
NM_003235.5(TG):c.7405-9C>T	rs778963384
NM_003235.5(TG):c.7414G>A (p.Val2472Met)	rs61730222
NM_003235.5(TG):c.7501_7502inv (p.Trp2501Gln)

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.