List of variants reported as likely pathogenic for Focal segmental glomerulosclerosis 5

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
NM_022489.4(INF2):c.641G>A (p.Arg214His)	rs267606879	0.00001
NM_022489.4(INF2):c.161G>C (p.Arg54Pro)	rs866348422
NM_022489.4(INF2):c.167G>A (p.Arg56His)	rs1595163730
NM_022489.4(INF2):c.353T>A (p.Ile118Asn)	rs2140639518
NM_022489.4(INF2):c.485T>C (p.Leu162Pro)	rs2140647298
NM_022489.4(INF2):c.529C>T (p.Arg177Cys)	rs1595166085
NM_022489.4(INF2):c.604A>G (p.Asn202Asp)
NM_022489.4(INF2):c.605A>G (p.Asn202Ser)	rs2140648522
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)	rs530391015

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.