List of variants reported as pathogenic for Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 by Fulgent Genetics, Fulgent Genetics

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 10q24.31(chr10:102568846-102589718)
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)	rs387906530
NM_000278.5(PAX2):c.250G>A (p.Gly84Ser)	rs2133836340
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter)	rs1845412705
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp)	rs1217241110
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)	rs76492282
NM_000278.5(PAX2):c.69del (p.Val26fs)
NM_000278.5(PAX2):c.76del (p.Val26fs)	rs75462234
NM_000278.5(PAX2):c.76dup (p.Val26fs)	rs75462234

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.