ClinVar Miner

List of variants reported as benign for diabetes insipidus

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_000486.6(AQP2):c.*1562T>C rs296766 0.91514
NM_000486.6(AQP2):c.*2495A>G rs296768 0.91375
NM_000486.6(AQP2):c.607-92A>G rs410837 0.88050
NM_000486.6(AQP2):c.607-253T>C rs439779 0.70786
NM_000486.6(AQP2):c.501T>C (p.Ser167=) rs426496 0.70780
NM_000486.6(AQP2):c.607-39C>G rs403201 0.70732
NM_000486.6(AQP2):c.*20C>A rs457487 0.57803
NM_000486.6(AQP2):c.*374C>T rs467323 0.53117
NM_000054.7(AVPR2):c.927A>G (p.Leu309=) rs5201 0.50717
NM_000486.6(AQP2):c.*1684T>C rs10875989 0.33771
NM_000486.6(AQP2):c.*2725A>C rs1077520 0.21838
NM_000486.6(AQP2):c.*3002G>C rs2878771 0.17599
NM_000486.6(AQP2):c.360+3G>A rs3741559 0.16237
NM_000486.6(AQP2):c.*3168T>C rs2878772 0.13262
NM_000486.6(AQP2):c.526-54T>C rs12372344 0.13174
NM_000486.6(AQP2):c.*1757A>G rs74091162 0.12242
NM_000054.7(AVPR2):c.993C>T (p.Ser331=) rs5202 0.07296
NM_000486.6(AQP2):c.*1228T>G rs77904078 0.03005
NM_000486.6(AQP2):c.*2250C>T rs296767 0.02919
NM_000054.7(AVPR2):c.19A>T (p.Thr7Ser) rs5196 0.02678
NM_000054.7(AVPR2):c.*257G>A rs73627263 0.02353
NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu) rs2071126 0.02308
NM_000054.7(AVPR2):c.440C>T (p.Ala147Val) rs5200 0.01635
NM_000486.6(AQP2):c.*1395C>T rs140054228 0.01496
NM_000486.6(AQP2):c.*907C>T rs60887132 0.01480
NM_000486.6(AQP2):c.342G>A (p.Gly114=) rs35400945 0.01305
NM_000486.6(AQP2):c.345C>T (p.Asp115=) rs60629501 0.01171
NM_000054.7(AVPR2):c.1113G>A (p.Ser371=) rs5203 0.01072
NM_000054.7(AVPR2):c.125C>T (p.Ala42Val) rs5198 0.01023
NM_000486.6(AQP2):c.*2101C>T rs77661963 0.00919
NM_000486.6(AQP2):c.-59G>A rs62620006 0.00748
NM_000486.6(AQP2):c.*252G>A rs114099597 0.00640
NM_000486.6(AQP2):c.*530C>T rs74091160 0.00589
NM_000486.6(AQP2):c.*1001G>A rs148904180 0.00559
NM_000486.6(AQP2):c.39G>A (p.Val13=) rs61733029 0.00540
NM_000054.7(AVPR2):c.12G>A (p.Ala4=) rs61748993 0.00449
NM_000486.6(AQP2):c.204C>T (p.Asn68=) rs57915981 0.00332
NM_000486.6(AQP2):c.*2795T>G rs1077521 0.00264
NM_000054.7(AVPR2):c.740G>A (p.Arg247His) rs149668713 0.00215
NM_000054.7(AVPR2):c.105G>A (p.Leu35=) rs5197 0.00133
NM_000054.7(AVPR2):c.*204C>T rs184401408 0.00131
NM_000054.7(AVPR2):c.*320G>A rs782034775 0.00126
NM_000054.7(AVPR2):c.174G>A (p.Val58=) rs201810684 0.00108
NM_000054.7(AVPR2):c.1017G>A (p.Leu339=) rs149557877 0.00106
NM_000054.7(AVPR2):c.643G>A (p.Val215Met) rs112109182 0.00082
NM_000054.7(AVPR2):c.117G>A (p.Ala39=) rs374487946 0.00061
NM_000054.7(AVPR2):c.742C>T (p.Arg248Cys) rs782516523 0.00022
NM_000054.7(AVPR2):c.317G>A (p.Arg106His) rs201053959 0.00017
NM_000054.7(AVPR2):c.126G>A (p.Ala42=) rs2234695 0.00016
NM_000054.7(AVPR2):c.*326A>C rs781796044 0.00013
NM_000054.7(AVPR2):c.311G>A (p.Arg104His) rs373990379 0.00009
NM_000054.7(AVPR2):c.769G>A (p.Gly257Ser) rs143480277 0.00009
NM_000054.7(AVPR2):c.546C>T (p.Asn182=) rs13306213 0.00005
NM_000486.6(AQP2):c.*1218T>C rs376984675 0.00005
NM_000486.6(AQP2):c.438C>T (p.Phe146=) rs143886391 0.00002
NM_000054.7(AVPR2):c.416G>A (p.Arg139His) rs782096959 0.00001
NM_000486.6(AQP2):c.*121C>G rs75528468
NM_000486.6(AQP2):c.*2290CT[1] rs72283122
NM_000486.6(AQP2):c.607-3del rs754520891
NM_000486.6(AQP2):c.607-59C>A rs371777

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