List of variants studied for proteinuria by OMIM

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

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter)	rs151340620
NM_001127898.4(CLCN5):c.1049G>C (p.Arg350Pro)	rs151340628
NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter)	rs151340627
NM_001127898.4(CLCN5):c.2295del (p.Met766fs)	rs1569540520
NM_002641.4(PIGA):c.1115del (p.Pro372fs)	rs587776725
NM_002641.4(PIGA):c.1188+1G>A	rs2147717286
NM_002641.4(PIGA):c.1188+2del	rs587776723
NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs)	rs587776728
NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer)	rs786200912
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter)	rs199422233
NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs)	rs587776726
NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter)	rs199422232
NM_002641.4(PIGA):c.431del (p.Thr144fs)	rs587776727
NM_002641.4(PIGA):c.459_460insA (p.His154fs)	rs587776724
NM_015937.6(PIGT):c.1401-2A>G	rs587777028

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.