ClinVar Miner

List of variants studied for diabetes insipidus

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 290
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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_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_000490.5(AVP):c.150C>A (p.Gly50=) rs371697622 0.00284
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_000486.6(AQP2):c.702G>A (p.Leu234=) rs143104356 0.00119
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_000054.7(AVPR2):c.441G>A (p.Ala147=) rs143055328 0.00049
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_000054.7(AVPR2):c.252C>T (p.Ala84=) rs370880911 0.00027
NM_000490.5(AVP):c.127C>G (p.Pro43Ala) rs539928673 0.00026
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_000490.5(AVP):c.132C>T (p.Cys44=) rs572548414 0.00018
NM_000054.7(AVPR2):c.317G>A (p.Arg106His) rs201053959 0.00017
NM_000054.7(AVPR2):c.797T>C (p.Val266Ala) rs111643041 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_000054.7(AVPR2):c.474G>A (p.Arg158=) rs368544649 0.00011
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.439G>A (p.Ala147Thr) rs104894334 0.00008
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.211G>A (p.Val71Met) rs149659001 0.00006
NM_000486.6(AQP2):c.70G>A (p.Val24Ile) rs200706192 0.00006
NM_000486.6(AQP2):c.763C>T (p.Gln255Ter) rs370879515 0.00006
NM_000054.7(AVPR2):c.546C>T (p.Asn182=) rs13306213 0.00005
NM_000054.7(AVPR2):c.663C>T (p.Ile221=) rs13306212 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.559C>T (p.Arg187Cys) rs104894328 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.785C>T (p.Pro262Leu) rs104894339 0.00004
NM_000490.5(AVP):c.54C>T (p.Ser18=) rs769495733 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.162C>G (p.Thr54=) rs143497314 0.00003
NM_000486.6(AQP2):c.258C>T (p.Ala86=) rs780540045 0.00003
NM_000486.6(AQP2):c.277C>T (p.Gln93Ter) rs770810694 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.170A>C (p.Gln57Pro) rs28931580 0.00002
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00002
NM_000486.6(AQP2):c.360+1G>A rs745861885 0.00002
NM_000486.6(AQP2):c.374C>T (p.Thr125Met) rs104894333 0.00002
NM_000486.6(AQP2):c.438C>T (p.Phe146=) rs143886391 0.00002
NM_000486.6(AQP2):c.447C>T (p.Thr149=) rs369985708 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.337C>T (p.Arg113Trp) rs28935496 0.00001
NM_000054.7(AVPR2):c.359T>C (p.Met120Thr) rs782323704 0.00001
NM_000054.7(AVPR2):c.410G>A (p.Arg137His) rs104894756 0.00001
NM_000054.7(AVPR2):c.416G>A (p.Arg139His) rs782096959 0.00001
NM_000054.7(AVPR2):c.445C>T (p.Arg149Cys) rs905300222 0.00001
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys) rs782806507 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_000054.7(AVPR2):c.963C>A (p.Asn321Lys) rs193922123 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.297C>T (p.Ala99=) rs959834754 0.00001
NM_000486.6(AQP2):c.299G>T (p.Gly100Val) rs104894338 0.00001
NM_000486.6(AQP2):c.324G>A (p.Thr108=) rs143940351 0.00001
NM_000486.6(AQP2):c.32G>A (p.Arg11Lys) rs148085137 0.00001
NM_000486.6(AQP2):c.377C>T (p.Thr126Met) rs104894330 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.560G>A (p.Arg187His) rs193922495 0.00001
NM_000486.6(AQP2):c.626T>C (p.Leu209Pro) rs889586478 0.00001
NM_000486.6(AQP2):c.64C>G (p.Leu22Val) rs104894336 0.00001
NM_000054.7(AVPR2):c.*190A>C rs1603282609
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.176T>C (p.Leu59Pro) rs193922112
NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1]) rs782292545
NM_000054.7(AVPR2):c.213G>A (p.Trp71Ter) rs104894751
NM_000054.7(AVPR2):c.24del (p.Ala9fs) rs1557100304
NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn) rs104894754
NM_000054.7(AVPR2):c.290T>C (p.Leu97Pro) rs193922113
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.316C>T (p.Arg106Cys) rs2148514430
NM_000054.7(AVPR2):c.335G>T (p.Cys112Phe) rs1057518723
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser) rs781950164
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.409C>G (p.Arg137Gly) rs104894761
NM_000054.7(AVPR2):c.424del (p.Cys142fs) rs193922114
NM_000054.7(AVPR2):c.468G>A (p.Trp156Ter)
NM_000054.7(AVPR2):c.472del (p.Arg158fs) rs193922115
NM_000054.7(AVPR2):c.503T>G (p.Leu168Arg) rs1557100711
NM_000054.7(AVPR2):c.513C>G (p.Ser171Arg) rs782601647
NM_000054.7(AVPR2):c.522G>T (p.Gln174His)
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.554del (p.Gly185fs) rs193922116
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.673C>T (p.Gln225Ter) rs193922117
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.744_755del (p.Arg249_Arg252del) rs782681085
NM_000054.7(AVPR2):c.752_758del (p.Arg251fs) rs193922118
NM_000054.7(AVPR2):c.770del (p.Gly257fs) rs193922119
NM_000054.7(AVPR2):c.770dup (p.Gly257_Glu258insTer) rs193922119
NM_000054.7(AVPR2):c.809_810del (p.Val270fs) rs2064966689
NM_000054.7(AVPR2):c.814A>G (p.Met272Val) rs2064966794
NM_000054.7(AVPR2):c.816G>A (p.Met272Ile) rs1603282342
NM_000054.7(AVPR2):c.819_821del (p.Leu274del) rs193922120
NM_000054.7(AVPR2):c.81G>T (p.Arg27Ser) rs1221495795
NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del) rs2064967091
NM_000054.7(AVPR2):c.838dup (p.Tyr280fs) rs193922121
NM_000054.7(AVPR2):c.839A>G (p.Tyr280Cys) rs104894752
NM_000054.7(AVPR2):c.853G>C (p.Ala285Pro) rs193922122
NM_000054.7(AVPR2):c.878G>A (p.Trp293Ter) rs1064797077
NM_000054.7(AVPR2):c.886T>C (p.Trp296Arg) rs886041110
NM_000054.7(AVPR2):c.964C>A (p.Pro322Thr) rs2148515160
NM_000054.7(AVPR2):c.966del (p.Trp323fs) rs886040961
NM_000054.7(AVPR2):c.993dup (p.Val332fs)
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.127C>T (p.Gln43Ter) rs1481158831
NM_000486.6(AQP2):c.127_128del (p.Gln43fs) rs1337669269
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.203A>G (p.Asn68Ser) rs104894331
NM_000486.6(AQP2):c.223T>G (p.Cys75Gly) rs193922494
NM_000486.6(AQP2):c.360+5G>T rs775237038
NM_000486.6(AQP2):c.369del (p.Asn123fs) rs1565636541
NM_000486.6(AQP2):c.375del (p.Thr126fs) rs764380594
NM_000486.6(AQP2):c.390G>C (p.Ala130=) rs139064235
NM_000486.6(AQP2):c.3G>T (p.Met1Ile) rs1288385043
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.502G>A (p.Val168Met)
NM_000486.6(AQP2):c.518T>G (p.Leu173Arg) rs2137147615
NM_000486.6(AQP2):c.523G>A (p.Gly175Arg) rs104894335
NM_000486.6(AQP2):c.526-1G>T rs749468605
NM_000486.6(AQP2):c.543C>G (p.Cys181Trp) rs104894337
NM_000486.6(AQP2):c.563C>T (p.Ser188Phe) rs1131690792
NM_000486.6(AQP2):c.568G>A (p.Ala190Thr) rs104894341
NM_000486.6(AQP2):c.606+14C>T rs138177134
NM_000486.6(AQP2):c.607-3del rs754520891
NM_000486.6(AQP2):c.607-59C>A rs371777
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.768G>C (p.Ser256=) rs771955610
NM_000486.6(AQP2):c.772G>A (p.Glu258Lys) rs104894332
NM_000486.6(AQP2):c.785del (p.Pro262fs) rs193922496
NM_000486.6(AQP2):c.797_*17del (p.Pro266fs) rs1947362334
NM_000486.6(AQP2):c.85G>A (p.Gly29Ser)
NM_000486.6(AQP2):c.97_119del (p.Asn33fs) rs772201159
NM_000490.5(AVP):c.131G>T (p.Cys44Phe) rs1057516192
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.218T>C (p.Leu73Pro)
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.329G>A (p.Cys110Tyr) rs1057521601
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.347G>A (p.Cys116Tyr) rs2148570601
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
NM_001393530.1(MATN4):c.515G>C (p.Gly172Ala) rs730882210

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