ClinVar Miner

List of variants studied for diabetes insipidus by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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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.*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.*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_000054.7(AVPR2):c.754C>T (p.Arg252Trp) rs61733407 0.00833
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.*2838C>T rs113903023 0.00277
NM_000486.6(AQP2):c.*2795T>G rs1077521 0.00264
NM_000486.6(AQP2):c.*2836C>T rs141457763 0.00264
NM_000054.7(AVPR2):c.740G>A (p.Arg247His) rs149668713 0.00215
NM_000486.6(AQP2):c.*321G>C rs151189685 0.00140
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_000486.6(AQP2):c.*2715C>G rs142648983 0.00107
NM_000054.7(AVPR2):c.1017G>A (p.Leu339=) rs149557877 0.00106
NM_000486.6(AQP2):c.*2359T>C rs140184713 0.00086
NM_000054.7(AVPR2):c.643G>A (p.Val215Met) rs112109182 0.00082
NM_000486.6(AQP2):c.*3104G>A rs116924705 0.00064
NM_000054.7(AVPR2):c.117G>A (p.Ala39=) rs374487946 0.00061
NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208 0.00060
NM_000054.7(AVPR2):c.*282G>A rs782404692 0.00056
NM_000054.7(AVPR2):c.189T>C (p.Ala63=) rs140156037 0.00053
NM_000486.6(AQP2):c.*232G>C rs557903887 0.00046
NM_000486.6(AQP2):c.*425T>C rs149425435 0.00039
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_000054.7(AVPR2):c.742C>T (p.Arg248Cys) rs782516523 0.00022
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_000054.7(AVPR2):c.317G>A (p.Arg106His) rs201053959 0.00017
NM_000054.7(AVPR2):c.126G>A (p.Ala42=) rs2234695 0.00016
NM_000486.6(AQP2):c.*3247A>G rs142405052 0.00016
NM_000486.6(AQP2):c.-60C>T rs563444539 0.00016
NM_000054.7(AVPR2):c.*326A>C rs781796044 0.00013
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.734G>C (p.Gly245Ala) rs146892293 0.00010
NM_000054.7(AVPR2):c.311G>A (p.Arg104His) rs373990379 0.00009
NM_000054.7(AVPR2):c.428G>A (p.Arg143His) rs146238429 0.00009
NM_000054.7(AVPR2):c.769G>A (p.Gly257Ser) rs143480277 0.00009
NM_000054.7(AVPR2):c.485T>C (p.Val162Ala) rs374461463 0.00008
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_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.*3172G>T rs543415669 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.*2048G>A rs573139693 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_000486.6(AQP2):c.438C>T (p.Phe146=) rs143886391 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.416G>A (p.Arg139His) rs782096959 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.*108A>G rs570014544 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.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.81G>T (p.Arg27Ser) rs1221495795
NM_000486.6(AQP2):c.*1065G>T rs946083576
NM_000486.6(AQP2):c.*1081C>A rs886049549
NM_000486.6(AQP2):c.*121C>G rs75528468
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.*1873G>A rs147991678
NM_000486.6(AQP2):c.*2099T>C rs1487865810
NM_000486.6(AQP2):c.*2290CT[1] rs72283122
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.140C>T (p.Ala47Val) rs995684800
NM_000486.6(AQP2):c.390G>C (p.Ala130=) rs139064235
NM_000486.6(AQP2):c.450T>A (p.Asp150Glu) rs770932012
NM_000486.6(AQP2):c.456C>A (p.Arg152=) rs1947349916
NM_000486.6(AQP2):c.606+14C>T rs138177134

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