List of variants in gene combination AQP2, AQP5 reported by Natera, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000486.6(AQP2):c.501T>C (p.Ser167=)	rs426496	0.70780
NM_000486.6(AQP2):c.702G>A (p.Leu234=)	rs143104356	0.00119
NM_000486.6(AQP2):c.471G>A (p.Pro157=)	rs138000704	0.00030
NM_000486.6(AQP2):c.579C>T (p.Val193=)	rs201812544	0.00029
NM_000486.6(AQP2):c.763C>T (p.Gln255Ter)	rs370879515	0.00006
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys)	rs104894328	0.00005
NM_000486.6(AQP2):c.735T>C (p.Asp245=)	rs201195539	0.00003
NM_000486.6(AQP2):c.447C>T (p.Thr149=)	rs369985708	0.00002
NM_000486.6(AQP2):c.459C>T (p.Arg153=)	rs201617819	0.00001
NM_000486.6(AQP2):c.450T>A (p.Asp150Glu)	rs770932012
NM_000486.6(AQP2):c.607-3del	rs754520891
NM_000486.6(AQP2):c.768G>C (p.Ser256=)	rs771955610

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.