List of variants studied for Galloway-Mowat syndrome 2, X-linked

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006014.5(LAGE3):c.*19G>C	rs6567	0.20303
NM_006014.5(LAGE3):c.362T>C (p.Ile121Thr)	rs146063259	0.00091
NM_006014.5(LAGE3):c.29G>A (p.Gly10Glu)	rs782019621	0.00014
NM_006014.5(LAGE3):c.184A>G (p.Ile62Val)	rs781993131	0.00001
NM_006014.5(LAGE3):c.188+1G>A	rs1557211410
NM_006014.5(LAGE3):c.189-2A>G	rs782344105
NM_006014.5(LAGE3):c.209C>T (p.Pro70Leu)
NM_006014.5(LAGE3):c.262C>T (p.Pro88Ser)	rs2523105815
NM_006014.5(LAGE3):c.287A>T (p.Asp96Val)	rs201041758
NM_006014.5(LAGE3):c.2T>G (p.Met1Arg)	rs2523107369
NM_006014.5(LAGE3):c.316G>T (p.Val106Phe)	rs1557211306
NM_006014.5(LAGE3):c.389T>G (p.Val130Gly)
NM_006014.5(LAGE3):c.410T>C (p.Phe137Ser)	rs1557211209
NM_006014.5(LAGE3):c.59G>C (p.Gly20Ala)

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.