ClinVar Miner

List of variants reported as uncertain significance for diabetes insipidus

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000486.6(AQP2):c.*2838C>T rs113903023 0.00277
NM_000486.6(AQP2):c.*2836C>T rs141457763 0.00264
NM_000486.6(AQP2):c.*321G>C rs151189685 0.00140
NM_000486.6(AQP2):c.702G>A (p.Leu234=) rs143104356 0.00119
NM_000486.6(AQP2):c.*2715C>G rs142648983 0.00107
NM_000486.6(AQP2):c.*2359T>C rs140184713 0.00086
NM_000486.6(AQP2):c.*3104G>A rs116924705 0.00064
NM_000054.7(AVPR2):c.*282G>A rs782404692 0.00056
NM_000486.6(AQP2):c.*873C>T rs150878207 0.00032
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.*3190G>A rs535624647 0.00025
NM_000486.6(AQP2):c.*2488T>C rs937699241 0.00019
NM_000486.6(AQP2):c.*2616G>A rs563819167 0.00019
NM_000486.6(AQP2):c.*602A>G rs760910086 0.00019
NM_000486.6(AQP2):c.141G>A (p.Ala47=) rs140262864 0.00019
NM_000486.6(AQP2):c.*3247A>G rs142405052 0.00016
NM_000486.6(AQP2):c.-60C>T rs563444539 0.00016
NM_000486.6(AQP2):c.-16C>T rs200777769 0.00012
NM_000486.6(AQP2):c.*2072T>C rs547970390 0.00011
NM_000054.7(AVPR2):c.1010G>A (p.Arg337Gln) rs782160409 0.00007
NM_000486.6(AQP2):c.*118C>T rs536142604 0.00006
NM_000486.6(AQP2):c.*3161A>G rs776879353 0.00006
NM_000486.6(AQP2):c.70G>A (p.Val24Ile) rs200706192 0.00006
NM_000486.6(AQP2):c.*3172G>T rs543415669 0.00005
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu) rs376000406 0.00005
NM_000486.6(AQP2):c.*1793C>T rs780930279 0.00004
NM_000486.6(AQP2):c.*943A>C rs886049548 0.00004
NM_000486.6(AQP2):c.-65G>A rs879038380 0.00004
NM_000486.6(AQP2):c.189C>T (p.Ser63=) rs200279968 0.00004
NM_000486.6(AQP2):c.391G>A (p.Val131Met) rs753295442 0.00004
NM_000486.6(AQP2):c.460G>A (p.Gly154Arg) rs369214822 0.00004
NM_000486.6(AQP2):c.*1599A>G rs886049552 0.00003
NM_000486.6(AQP2):c.*2804C>A rs886049553 0.00003
NM_000486.6(AQP2):c.*57G>A rs886049543 0.00003
NM_000486.6(AQP2):c.*640T>C rs569905754 0.00003
NM_000486.6(AQP2):c.607-12G>T rs761776136 0.00003
NM_000486.6(AQP2):c.735T>C (p.Asp245=) rs201195539 0.00003
NM_000054.7(AVPR2):c.*129C>T rs782022257 0.00002
NM_000054.7(AVPR2):c.69C>T (p.Ser23=) rs377144623 0.00002
NM_000486.6(AQP2):c.*1207T>C rs886049550 0.00002
NM_000486.6(AQP2):c.*250A>G rs373992535 0.00002
NM_000486.6(AQP2):c.*3203G>A rs142636775 0.00002
NM_000486.6(AQP2):c.*485C>T rs886049545 0.00002
NM_000486.6(AQP2):c.*888G>T rs886049547 0.00002
NM_000486.6(AQP2):c.-93G>A rs138200476 0.00002
NM_000054.7(AVPR2):c.*119G>A rs782425427 0.00001
NM_000054.7(AVPR2):c.*136T>G rs782141948 0.00001
NM_000054.7(AVPR2):c.-48G>C rs782204150 0.00001
NM_000054.7(AVPR2):c.359T>C (p.Met120Thr) rs782323704 0.00001
NM_000054.7(AVPR2):c.445C>T (p.Arg149Cys) rs905300222 0.00001
NM_000054.7(AVPR2):c.784G>A (p.Val262Met) rs1557100878 0.00001
NM_000054.7(AVPR2):c.837C>G (p.Val279=) rs781801367 0.00001
NM_000486.6(AQP2):c.*103A>G rs886049544 0.00001
NM_000486.6(AQP2):c.*1315G>T rs958221212 0.00001
NM_000486.6(AQP2):c.*1889C>T rs904253855 0.00001
NM_000486.6(AQP2):c.*2869G>A rs530539331 0.00001
NM_000486.6(AQP2):c.*2937T>A rs1048751748 0.00001
NM_000486.6(AQP2):c.*2938C>T rs886049554 0.00001
NM_000486.6(AQP2):c.*976A>G rs372756747 0.00001
NM_000486.6(AQP2):c.246C>T (p.Ser82=) rs764185466 0.00001
NM_000486.6(AQP2):c.32G>A (p.Arg11Lys) rs148085137 0.00001
NM_000486.6(AQP2):c.459C>T (p.Arg153=) rs201617819 0.00001
NM_000486.6(AQP2):c.526-5T>G rs780168218 0.00001
NM_000486.6(AQP2):c.626T>C (p.Leu209Pro) rs889586478 0.00001
NM_000054.7(AVPR2):c.*190A>C rs1603282609
NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1]) rs782292545
NM_000054.7(AVPR2):c.316C>T (p.Arg106Cys) rs2148514430
NM_000054.7(AVPR2):c.503T>G (p.Leu168Arg) rs1557100711
NM_000054.7(AVPR2):c.744_755del (p.Arg249_Arg252del) rs782681085
NM_000054.7(AVPR2):c.81G>T (p.Arg27Ser) rs1221495795
NM_000054.7(AVPR2):c.886T>C (p.Trp296Arg) rs886041110
NM_000486.6(AQP2):c.*1065G>T rs946083576
NM_000486.6(AQP2):c.*1081C>A rs886049549
NM_000486.6(AQP2):c.*1243C>A rs886049551
NM_000486.6(AQP2):c.*1270C>T rs1947374383
NM_000486.6(AQP2):c.*1646C>T rs1947377738
NM_000486.6(AQP2):c.*1730del rs141050726
NM_000486.6(AQP2):c.*2099T>C rs1487865810
NM_000486.6(AQP2):c.*2961C>T rs1947391246
NM_000486.6(AQP2):c.*3081C>T rs886049555
NM_000486.6(AQP2):c.*3153T>G rs886049556
NM_000486.6(AQP2):c.*375G>A rs764534087
NM_000486.6(AQP2):c.*842C>T rs886049546
NM_000486.6(AQP2):c.-75G>A rs149553671
NM_000486.6(AQP2):c.-75G>T rs149553671
NM_000486.6(AQP2):c.135C>T (p.Ala45=) rs1947324370
NM_000486.6(AQP2):c.140C>T (p.Ala47Val) rs995684800
NM_000486.6(AQP2):c.155T>C (p.Ile52Thr) rs2137144293
NM_000486.6(AQP2):c.360+5G>T rs775237038
NM_000486.6(AQP2):c.390G>C (p.Ala130=) rs139064235
NM_000486.6(AQP2):c.456C>A (p.Arg152=) rs1947349916
NM_000486.6(AQP2):c.518T>G (p.Leu173Arg) rs2137147615
NM_000490.5(AVP):c.218T>C (p.Leu73Pro)
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) rs2066119604

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.