List of variants in gene combination CLCN5, LOC126863258 reported as uncertain significance for Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001127898.4(CLCN5):c.1942C>T (p.His648Tyr)	rs782515769	0.00006
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met)	rs781924436	0.00005
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile)	rs201962580	0.00005
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala)	rs147378499	0.00004
NM_001127898.4(CLCN5):c.2249G>A (p.Arg750Gln)	rs1445078592	0.00004
NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val)	rs782088515	0.00002
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser)	rs946613180	0.00002
NM_001127898.4(CLCN5):c.1975C>T (p.Arg659Trp)	rs782594764	0.00001
NM_001127898.4(CLCN5):c.2023G>A (p.Val675Met)
NM_001127898.4(CLCN5):c.2090A>G (p.Glu697Gly)
NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser)	rs782267039

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.