ClinVar Miner

List of variants studied for diabetes insipidus by OMIM

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000486.6(AQP2):c.439G>A (p.Ala147Thr) rs104894334 0.00008
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys) rs104894328 0.00005
NM_000486.6(AQP2):c.785C>T (p.Pro262Leu) rs104894339 0.00004
NM_000486.6(AQP2):c.170A>C (p.Gln57Pro) rs28931580 0.00002
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00002
NM_000486.6(AQP2):c.374C>T (p.Thr125Met) rs104894333 0.00002
NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp) rs28935496 0.00001
NM_000054.7(AVPR2):c.410G>A (p.Arg137His) rs104894756 0.00001
NM_000486.6(AQP2):c.299G>T (p.Gly100Val) rs104894338 0.00001
NM_000486.6(AQP2):c.377C>T (p.Thr126Met) rs104894330 0.00001
NM_000486.6(AQP2):c.64C>G (p.Leu22Val) rs104894336 0.00001
NM_000054.7(AVPR2):c.1009C>T (p.Arg337Ter) rs104894753
NM_000054.7(AVPR2):c.102del (p.Leu35fs) rs1569545523
NM_000054.7(AVPR2):c.137T>A (p.Ile46Lys) rs104894759
NM_000054.7(AVPR2):c.213G>A (p.Trp71Ter) rs104894751
NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn) rs104894754
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.7(AVPR2):c.313T>G (p.Phe105Val) rs104894758
NM_000054.7(AVPR2):c.388A>T (p.Ile130Phe) rs796052096
NM_000054.7(AVPR2):c.395C>A (p.Ala132Asp) rs104894747
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys) rs104894757
NM_000054.7(AVPR2):c.553G>T (p.Gly185Cys) rs104894748
NM_000054.7(AVPR2):c.602G>A (p.Gly201Asp) rs104894755
NM_000054.7(AVPR2):c.607C>T (p.Arg203Cys) rs104894750
NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys) rs104894749
NM_000054.7(AVPR2):c.682_683insC (p.Ile228fs) rs2148514762
NM_000054.7(AVPR2):c.738del (p.Arg247fs) rs781942628
NM_000054.7(AVPR2):c.738dup (p.Arg247fs) rs781942628
NM_000054.7(AVPR2):c.839A>G (p.Tyr280Cys) rs104894752
NM_000486.6(AQP2):c.203A>G (p.Asn68Ser) rs104894331
NM_000486.6(AQP2):c.369del (p.Asn123fs) rs1565636541
NM_000486.6(AQP2):c.523G>A (p.Gly175Arg) rs104894335
NM_000486.6(AQP2):c.543C>G (p.Cys181Trp) rs104894337
NM_000486.6(AQP2):c.568G>A (p.Ala190Thr) rs104894341
NM_000486.6(AQP2):c.646T>C (p.Ser216Pro) rs104894329
NM_000486.6(AQP2):c.721del (p.Glu241fs) rs1565637179
NM_000486.6(AQP2):c.727del (p.Asp243fs) rs1565637189
NM_000486.6(AQP2):c.772G>A (p.Glu258Lys) rs104894332
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.229GAG[1] (p.Glu78del) rs2066119604
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.3del (p.Met1fs) rs2148571870
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
NM_000490.5(AVP):c.64_66del (p.Phe22del) rs2148571804

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