ClinVar Miner

List of variants in gene TJP2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 253
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.239+19T>C rs2498417 0.90366
NM_004817.4(TJP2):c.61-7456A>G rs2498440 0.88915
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) rs2309428 0.77489
NM_004817.4(TJP2):c.2356-84C>G rs2993823 0.64834
NM_004817.4(TJP2):c.*183G>A rs3812536 0.42169
NM_004817.4(TJP2):c.115-229C>A rs3750549 0.41595
NM_004817.4(TJP2):c.2992-19G>A rs2282335 0.39706
NM_004817.4(TJP2):c.114+101T>C rs34883177 0.38176
NM_004817.4(TJP2):c.2356-126C>G rs10867196 0.28953
NM_004817.4(TJP2):c.1991+54A>G rs2275430 0.27500
NM_004817.4(TJP2):c.1781-91G>A rs2275431 0.26234
NM_004817.4(TJP2):c.2566+207A>G rs41312176 0.24930
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336 0.22650
NM_004817.4(TJP2):c.2727G>A (p.Ala909=) rs2095876 0.22643
NM_004817.4(TJP2):c.2180-34G>A rs2309421 0.22518
NM_004817.4(TJP2):c.1991+261G>A rs9410796 0.19981
NM_004817.4(TJP2):c.1056+73C>A rs17062682 0.18658
NM_004817.4(TJP2):c.2668-271A>T rs34992883 0.12139
NM_004817.4(TJP2):c.1211-290C>T rs11137588 0.11007
NM_004817.4(TJP2):c.382C>A (p.Gln128Lys) rs41305539 0.10827
NM_004817.4(TJP2):c.239+173dup rs139444591 0.10292
NM_004817.4(TJP2):c.1672-20C>G rs80014470 0.09453
NM_004817.4(TJP2):c.1454-193dup rs147262838 0.08976
NM_004817.4(TJP2):c.1211-302A>T rs17411479 0.08855
NM_004817.4(TJP2):c.1137A>G (p.Leu379=) rs17062695 0.08425
NM_004817.4(TJP2):c.953-295G>C rs12341832 0.07713
NM_004817.4(TJP2):c.1991+117C>T rs41316486 0.07474
NM_004817.4(TJP2):c.952+160T>C rs139832825 0.07340
NM_004817.4(TJP2):c.2880+95A>G rs77236826 0.07154
NM_004817.4(TJP2):c.2880+223C>T rs11793527 0.07143
NM_004817.4(TJP2):c.115-94T>G rs72709078 0.07139
NM_004817.4(TJP2):c.1056+155A>T rs12683448 0.06861
NM_004817.4(TJP2):c.1780+55A>T rs78681248 0.06056
NM_004817.4(TJP2):c.3029C>T (p.Ser1010Phe) rs41277907 0.05575
NM_004817.4(TJP2):c.3407+45A>G rs41277913 0.04978
NM_004817.4(TJP2):c.2992-116G>A rs117794991 0.04729
NM_004817.4(TJP2):c.2179+152A>G rs12553945 0.04707
NM_004817.4(TJP2):c.2004G>A (p.Met668Ile) rs34774441 0.04571
NM_004817.4(TJP2):c.61-7316G>A rs4493966 0.04221
NM_004817.4(TJP2):c.2275+16T>G rs73450890 0.04139
NM_004817.4(TJP2):c.2667+139A>G rs74523274 0.04124
NM_004817.4(TJP2):c.342+102C>T rs78266220 0.03536
NM_004817.4(TJP2):c.1780+78G>C rs78326540 0.03404
NM_004817.4(TJP2):c.2180-47C>T rs73450889 0.02835
NM_004817.4(TJP2):c.1781-115G>A rs73450886 0.02810
NM_004817.4(TJP2):c.3408-99C>T rs7019775 0.02668
NM_004817.4(TJP2):c.2131T>C (p.Ser711Pro) rs35797487 0.02532
NM_004817.4(TJP2):c.1350C>T (p.Ser450=) rs17062723 0.02463
NM_004817.4(TJP2):c.2276-161G>C rs75392135 0.02399
NM_004817.4(TJP2):c.2567-342C>T rs72709091 0.02150
NM_004817.4(TJP2):c.342+12G>T rs7027812 0.01934
NM_004817.4(TJP2):c.61-7692T>C rs73649624 0.01917
NM_004817.4(TJP2):c.1781-188A>G rs112646831 0.01728
NM_004817.4(TJP2):c.1672-295A>G rs145846322 0.01719
NM_004817.4(TJP2):c.2356-229G>A rs113153370 0.01546
NM_004817.4(TJP2):c.952+319G>A rs7867725 0.01534
NM_004817.4(TJP2):c.2668-30C>T rs113671582 0.01353
NM_004817.4(TJP2):c.1917C>T (p.Asp639=) rs12340440 0.01348
NM_004817.4(TJP2):c.2646G>A (p.Ala882=) rs11788754 0.01323
NM_004817.4(TJP2):c.2668-249G>A rs11789323 0.01321
NM_004817.4(TJP2):c.2778C>T (p.Asp926=) rs140442228 0.01321
NM_004817.4(TJP2):c.1478G>A (p.Arg493Lys) rs41277901 0.01317
NM_004817.4(TJP2):c.2668-90C>T rs117754658 0.01315
NM_004817.4(TJP2):c.3407+33C>T rs41277911 0.01302
NM_004817.4(TJP2):c.2367A>G (p.Ala789=) rs75668442 0.01213
NM_004817.4(TJP2):c.952+39A>G rs11137566 0.01090
NM_004817.4(TJP2):c.343-117T>C rs7853480 0.01027
NM_004817.4(TJP2):c.61-6929A>G rs114628921 0.01016
NM_001170414.2(TJP2):c.-10+22063G>A rs12340435 0.01014
NM_004817.4(TJP2):c.297G>A (p.Ser99=) rs72709079 0.00975
NM_004817.4(TJP2):c.3495G>A (p.Glu1165=) rs111595785 0.00843
NM_004817.4(TJP2):c.2810T>C (p.Leu937Pro) rs28556975 0.00841
NM_004817.4(TJP2):c.2137A>G (p.Ser713Gly) rs116545275 0.00763
NM_004817.4(TJP2):c.1056+167T>C rs73649627 0.00704
NM_004817.4(TJP2):c.1520+184G>A rs73649628 0.00704
NM_004817.4(TJP2):c.2276-171G>A rs181386193 0.00699
NM_004817.4(TJP2):c.1091C>T (p.Thr364Met) rs77321498 0.00629
NM_004817.4(TJP2):c.61-6972G>C rs141726498 0.00576
NM_004817.4(TJP2):c.61-7344G>C rs73450853 0.00547
NM_004817.4(TJP2):c.61-301T>C rs111648575 0.00539
NM_004817.4(TJP2):c.-26G>A rs147729271 0.00504
NM_004817.4(TJP2):c.2668-89G>A rs78728942 0.00440
NM_004817.4(TJP2):c.1780+318C>T rs75342415 0.00405
NM_004817.4(TJP2):c.1671+110C>G rs75980642 0.00382
NM_004817.4(TJP2):c.1063G>C (p.Gly355Arg) rs78681604 0.00381
NM_004817.4(TJP2):c.2667+29G>C rs112883125 0.00381
NM_004817.4(TJP2):c.3407+22C>G rs78327988 0.00351
NM_004817.4(TJP2):c.1210+243T>C rs191814350 0.00346
NM_004817.4(TJP2):c.2040G>A (p.Gly680=) rs111723895 0.00330
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_004817.4(TJP2):c.644G>A (p.Arg215His) rs201977617 0.00322
NM_004817.4(TJP2):c.952+52T>C rs183291194 0.00321
NM_004817.4(TJP2):c.342+111C>T rs148364966 0.00319
NM_004817.4(TJP2):c.-16G>T rs199557806 0.00310
NM_004817.4(TJP2):c.240-231C>T rs191289272 0.00292
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) rs75450131 0.00273
NM_004817.4(TJP2):c.2356-49A>G rs80159786 0.00221
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816 0.00211
NM_004817.4(TJP2):c.1671+181A>G rs3750550 0.00190
NM_004817.4(TJP2):c.2691C>T (p.Pro897=) rs149969431 0.00180
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_004817.4(TJP2):c.239+16C>T rs190537310 0.00158
NM_004817.4(TJP2):c.3342T>C (p.His1114=) rs61753629 0.00157
NM_004817.4(TJP2):c.61-6A>T rs200415824 0.00145
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553 0.00110
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu) rs199641113 0.00048
NM_004817.4(TJP2):c.1018A>G (p.Lys340Glu) rs763206171 0.00046
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) rs149659876 0.00044
NM_004817.4(TJP2):c.918C>T (p.Ile306=) rs374523970 0.00041
NM_004817.4(TJP2):c.2668-34G>A rs140714085 0.00037
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) rs199767035 0.00029
NM_004817.4(TJP2):c.2726C>T (p.Ala909Val) rs146761713 0.00028
NM_004817.4(TJP2):c.61-7416G>A rs117931408 0.00028
NM_004817.4(TJP2):c.2880+136G>C rs372958385 0.00024
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) rs199892018 0.00024
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr) rs139276234 0.00022
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=) rs141675065 0.00019
NM_004817.4(TJP2):c.2129T>C (p.Val710Ala) rs150440380 0.00017
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met) rs139636763 0.00015
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu) rs201366118 0.00014
NM_004817.4(TJP2):c.375C>T (p.Ala125=) rs181450555 0.00014
NM_004817.4(TJP2):c.887G>A (p.Ser296Asn) rs376434139 0.00014
NM_004817.4(TJP2):c.2335G>A (p.Val779Met) rs145368713 0.00012
NM_004817.4(TJP2):c.2909G>A (p.Arg970Gln) rs150494393 0.00011
NM_004817.4(TJP2):c.2961G>A (p.Pro987=) rs371617466 0.00010
NM_004817.4(TJP2):c.3071G>A (p.Gly1024Asp) rs138564703 0.00010
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr) rs144396411 0.00010
NM_004817.4(TJP2):c.1005G>A (p.Thr335=) rs140444730 0.00009
NM_004817.4(TJP2):c.1597A>T (p.Ile533Leu) rs770295068 0.00009
NM_004817.4(TJP2):c.2567-12A>G rs761461587 0.00009
NM_004817.4(TJP2):c.2859G>T (p.Ser953=) rs369972534 0.00009
NM_004817.4(TJP2):c.985G>A (p.Val329Ile) rs140340673 0.00009
NM_004817.4(TJP2):c.638G>T (p.Arg213Leu) rs775377668 0.00008
NM_004817.4(TJP2):c.2279C>T (p.Thr760Met) rs370850127 0.00007
NM_004817.4(TJP2):c.37C>T (p.Arg13Trp) rs141127141 0.00007
NM_004817.4(TJP2):c.2884A>G (p.Ile962Val) rs199704587 0.00006
NM_004817.4(TJP2):c.64C>G (p.Pro22Ala) rs541933921 0.00006
NM_004817.4(TJP2):c.919G>A (p.Gly307Arg) rs755673431 0.00006
NM_004817.4(TJP2):c.3225C>T (p.Pro1075=) rs146241989 0.00005
NM_004817.4(TJP2):c.3322A>G (p.Ile1108Val) rs201835299 0.00005
NM_004817.4(TJP2):c.3500G>T (p.Arg1167Leu) rs370985421 0.00005
NM_004817.4(TJP2):c.1197C>T (p.Asp399=) rs760089916 0.00004
NM_004817.4(TJP2):c.1629G>A (p.Ser543=) rs771239031 0.00004
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val) rs142684074 0.00004
NM_004817.4(TJP2):c.19C>T (p.Arg7Cys) rs886044200 0.00004
NM_004817.4(TJP2):c.2044C>T (p.Arg682Trp) rs760622082 0.00004
NM_004817.4(TJP2):c.2751C>T (p.Arg917=) rs184519036 0.00004
NM_004817.4(TJP2):c.3115G>A (p.Val1039Ile) rs774645374 0.00004
NM_004817.4(TJP2):c.3183T>G (p.Gly1061=) rs749387422 0.00004
NM_004817.4(TJP2):c.1817C>T (p.Ser606Leu) rs776993361 0.00003
NM_004817.4(TJP2):c.190A>G (p.Ile64Val) rs1400260492 0.00003
NM_004817.4(TJP2):c.2708A>C (p.Tyr903Ser) rs775354216 0.00003
NM_004817.4(TJP2):c.2749C>T (p.Arg917Cys) rs1219019246 0.00003
NM_004817.4(TJP2):c.2987C>T (p.Pro996Leu) rs727504634 0.00003
NM_004817.4(TJP2):c.428T>C (p.Met143Thr) rs1011824757 0.00003
NM_004817.4(TJP2):c.61-7A>G rs755087942 0.00003
NM_004817.4(TJP2):c.877C>T (p.Arg293Trp) rs189916909 0.00003
NM_004817.4(TJP2):c.1027A>G (p.Asn343Asp) rs538420656 0.00002
NM_004817.4(TJP2):c.1053C>T (p.Leu351=) rs1056969112 0.00002
NM_004817.4(TJP2):c.1557C>T (p.Asp519=) rs1461192304 0.00002
NM_004817.4(TJP2):c.213G>A (p.Pro71=) rs780781603 0.00002
NM_004817.4(TJP2):c.2774C>T (p.Thr925Met) rs774198938 0.00002
NM_004817.4(TJP2):c.2775G>A (p.Thr925=) rs374453976 0.00002
NM_004817.4(TJP2):c.2832G>A (p.Pro944=) rs191634088 0.00002
NM_004817.4(TJP2):c.2863C>A (p.Pro955Thr) rs1034527835 0.00002
NM_004817.4(TJP2):c.631C>T (p.Arg211Cys) rs771622774 0.00002
NM_004817.4(TJP2):c.821G>A (p.Arg274His) rs754080705 0.00002
NM_004817.4(TJP2):c.1004C>T (p.Thr335Met) rs548602675 0.00001
NM_004817.4(TJP2):c.1028A>G (p.Asn343Ser) rs763855572 0.00001
NM_004817.4(TJP2):c.1056+2T>C rs1278244243 0.00001
NM_004817.4(TJP2):c.1561G>A (p.Val521Met) rs765095120 0.00001
NM_004817.4(TJP2):c.1594G>A (p.Gly532Arg) rs748191387 0.00001
NM_004817.4(TJP2):c.2164G>A (p.Val722Ile) rs755062873 0.00001
NM_004817.4(TJP2):c.2954A>G (p.Asn985Ser) rs750758555 0.00001
NM_004817.4(TJP2):c.322A>T (p.Ser108Cys) rs727504668 0.00001
NM_004817.4(TJP2):c.3322-2A>C rs41277909 0.00001
NM_004817.4(TJP2):c.3503A>G (p.Gln1168Arg) rs759725360 0.00001
NM_004817.4(TJP2):c.3528C>T (p.Arg1176=) rs147675640 0.00001
NM_004817.4(TJP2):c.413G>A (p.Arg138Gln) rs764394462 0.00001
NM_004817.4(TJP2):c.499C>T (p.Arg167Cys) rs967520708 0.00001
NM_004817.4(TJP2):c.49G>C (p.Gly17Arg) rs1824901947 0.00001
NM_004817.4(TJP2):c.607C>T (p.Arg203Trp) rs781732191 0.00001
NM_004817.4(TJP2):c.629C>G (p.Ala210Gly) rs773909292 0.00001
NM_004817.4(TJP2):c.853C>T (p.Arg285Cys) rs546327568 0.00001
NM_004817.4(TJP2):c.952+3A>G rs1189567891 0.00001
NM_004817.4(TJP2):c.984C>T (p.Phe328=) rs1829255885 0.00001
NM_004817.4(TJP2):c.115-304G>A rs79422901
NM_004817.4(TJP2):c.1265A>G (p.Gln422Arg) rs144928091
NM_004817.4(TJP2):c.1367C>A (p.Pro456His)
NM_004817.4(TJP2):c.1430C>A (p.Pro477His) rs1310545927
NM_004817.4(TJP2):c.1672-183C>G rs12551566
NM_004817.4(TJP2):c.1672-27del rs202100183
NM_004817.4(TJP2):c.1672-28_1672-27dup rs202100183
NM_004817.4(TJP2):c.1672-67_1672-66dup rs202132958
NM_004817.4(TJP2):c.1672-68TTTC[6] rs548512481
NM_004817.4(TJP2):c.1672-68TTTC[8] rs548512481
NM_004817.4(TJP2):c.1672-68TTTC[9] rs548512481
NM_004817.4(TJP2):c.1780+303C>T rs10867187
NM_004817.4(TJP2):c.1820T>G (p.Phe607Cys)
NM_004817.4(TJP2):c.2027G>C (p.Arg676Thr)
NM_004817.4(TJP2):c.2036C>G (p.Ala679Gly)
NM_004817.4(TJP2):c.2083G>T (p.Val695Leu)
NM_004817.4(TJP2):c.2115C>A (p.Asp705Glu) rs2133388522
NM_004817.4(TJP2):c.2180-275_2180-274insGTAGGAGGATCGCTTGAG rs11272756
NM_004817.4(TJP2):c.2230A>G (p.Met744Val) rs749647498
NM_004817.4(TJP2):c.2323C>T (p.Arg775Trp)
NM_004817.4(TJP2):c.2356-115AAAC[3] rs56355642
NM_004817.4(TJP2):c.2395G>A (p.Asp799Asn)
NM_004817.4(TJP2):c.2415G>T (p.Gln805His)
NM_004817.4(TJP2):c.2426T>C (p.Ile809Thr)
NM_004817.4(TJP2):c.2434T>G (p.Phe812Val)
NM_004817.4(TJP2):c.2546C>G (p.Thr849Arg) rs763461861
NM_004817.4(TJP2):c.2566+59G>A rs7035000
NM_004817.4(TJP2):c.2572A>G (p.Ile858Val)
NM_004817.4(TJP2):c.2632C>T (p.Gln878Ter) rs1554667607
NM_004817.4(TJP2):c.2645C>A (p.Ala882Glu) rs1014295697
NM_004817.4(TJP2):c.2645C>T (p.Ala882Val) rs1014295697
NM_004817.4(TJP2):c.2668-111C>A rs41308892
NM_004817.4(TJP2):c.2845A>G (p.Ile949Val)
NM_004817.4(TJP2):c.2866G>C (p.Val956Leu)
NM_004817.4(TJP2):c.2884A>C (p.Ile962Leu)
NM_004817.4(TJP2):c.2991+1_2991+2dup rs2133478687
NM_004817.4(TJP2):c.3152A>T (p.Lys1051Met) rs1284322615
NM_004817.4(TJP2):c.3182G>T (p.Gly1061Val)
NM_004817.4(TJP2):c.3215A>G (p.Asp1072Gly)
NM_004817.4(TJP2):c.3321+162C>T rs2282334
NM_004817.4(TJP2):c.3325G>A (p.Glu1109Lys) rs1225374015
NM_004817.4(TJP2):c.3408-6del rs778863371
NM_004817.4(TJP2):c.343-28G>A rs41305541
NM_004817.4(TJP2):c.3527G>A (p.Arg1176His)
NM_004817.4(TJP2):c.3556C>G (p.Arg1186Gly) rs112109886
NM_004817.4(TJP2):c.356C>T (p.Pro119Leu) rs1381055371
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg) rs141496493
NM_004817.4(TJP2):c.432C>G (p.Asp144Glu)
NM_004817.4(TJP2):c.440A>G (p.Asp147Gly) rs751419583
NM_004817.4(TJP2):c.490C>T (p.His164Tyr)
NM_004817.4(TJP2):c.559C>G (p.Arg187Gly)
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) rs886041948
NM_004817.4(TJP2):c.590_601del (p.Arg197_Ser200del) rs749616153
NM_004817.4(TJP2):c.599G>T (p.Ser200Ile) rs373944275
NM_004817.4(TJP2):c.60+39CGTGAG[3] rs59568063
NM_004817.4(TJP2):c.679C>T (p.His227Tyr)
NM_004817.4(TJP2):c.720C>A (p.Ser240Arg) rs1828820699
NM_004817.4(TJP2):c.764G>A (p.Arg255Gln)
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) rs587777518
NM_004817.4(TJP2):c.782A>G (p.Tyr261Cys)
NM_004817.4(TJP2):c.838C>T (p.Arg280Trp)
NM_004817.4(TJP2):c.839G>T (p.Arg280Leu) rs1354655431
NM_004817.4(TJP2):c.849A>C (p.Arg283=) rs1828839061
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3]) rs760152519
NM_004817.4(TJP2):c.952+74del rs113816166
NM_004817.4(TJP2):c.953-175T>G rs75334488

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