ClinVar Miner

List of variants reported as pathogenic for Neurohypophyseal diabetes insipidus by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
AVP, 1-BP DEL, 227G
AVP, 3-BP DEL, NT1824
NM_000490.5(AVP):c.143G>T (p.Gly48Val) rs121964883
NM_000490.5(AVP):c.160G>C (p.Gly54Arg) rs121964888
NM_000490.5(AVP):c.161G>T (p.Gly54Val) rs121964887
NM_000490.5(AVP):c.200T>C (p.Val67Ala) rs28934878
NM_000490.5(AVP):c.260C>T (p.Ser87Phe) rs121964890
NM_000490.5(AVP):c.262G>A (p.Gly88Ser) rs121964882
NM_000490.5(AVP):c.275G>A (p.Cys92Tyr) rs121964891
NM_000490.5(AVP):c.277G>T (p.Gly93Trp) rs121964885
NM_000490.5(AVP):c.287G>T (p.Gly96Val) rs121964886
NM_000490.5(AVP):c.294C>A (p.Cys98Ter) rs121964884
NM_000490.5(AVP):c.337G>T (p.Glu113Ter) rs121964889
NM_000490.5(AVP):c.346T>G (p.Cys116Gly) rs74315383
NM_000490.5(AVP):c.55G>A (p.Ala19Thr) rs387906511
NM_000490.5(AVP):c.56C>T (p.Ala19Val) rs387906512
NM_000490.5(AVP):c.61T>C (p.Tyr21His) rs121964893

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.