List of variants in gene TPRKB studied for Galloway-Mowat syndrome 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016058.5(TPRKB):c.390G>A (p.Gln130=)	rs144417465	0.00016
NM_016058.5(TPRKB):c.446A>G (p.Tyr149Cys)	rs1233885358	0.00001
NM_016058.5(TPRKB):c.407T>C (p.Leu136Pro)	rs1553433412
NM_016058.5(TPRKB):c.445T>A (p.Tyr149Asn)
NM_016058.5(TPRKB):c.474T>C (p.Ile158=)	rs7210
NM_016058.5(TPRKB):c.89GAA[1] (p.Arg31del)	rs2103862688

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.