ClinVar Miner

List of variants in gene TJP2 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.239+19T>C rs2498417 0.90366
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.382C>A (p.Gln128Lys) rs41305539 0.10827
NM_004817.4(TJP2):c.1672-20C>G rs80014470 0.09453
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.2636A>G (p.Gln879Arg) rs75450131 0.00273
NM_001170414.2(TJP2):c.-10G>A rs374563251 0.00240
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816 0.00211
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.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.981C>A (p.Ile327=) rs147139671 0.00052
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.2880+19C>T rs200384355 0.00044
NM_004817.4(TJP2):c.918C>T (p.Ile306=) rs374523970 0.00041
NM_004817.4(TJP2):c.3160A>G (p.Thr1054Ala) rs57728054 0.00031
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) rs199767035 0.00029
NM_004817.4(TJP2):c.61-7341A>G rs151117327 0.00029
NM_004817.4(TJP2):c.2726C>T (p.Ala909Val) rs146761713 0.00028
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.2277A>C (p.Lys759Asn) rs144429323 0.00018
NM_004817.4(TJP2):c.705G>T (p.Arg235=) rs750625862 0.00017
NM_004817.4(TJP2):c.1473C>A (p.Ala491=) rs138509345 0.00015
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met) rs139636763 0.00015
NM_004817.4(TJP2):c.1818G>A (p.Ser606=) rs527789195 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.3063C>T (p.Ala1021=) rs367977493 0.00013
NM_004817.4(TJP2):c.3140G>C (p.Arg1047Pro) rs191327525 0.00013
NM_004817.4(TJP2):c.61-7319G>C rs371868876 0.00013
NM_004817.4(TJP2):c.1656A>G (p.Gly552=) rs150723764 0.00012
NM_004817.4(TJP2):c.2335G>A (p.Val779Met) rs145368713 0.00012
NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu) rs769636686 0.00012
NM_004817.4(TJP2):c.1506T>C (p.Asp502=) rs139354927 0.00011
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile) rs189443180 0.00011
NM_004817.4(TJP2):c.577C>T (p.Arg193Trp) rs200390074 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.1953G>T (p.Gly651=) rs750134026 0.00009
NM_004817.4(TJP2):c.985G>A (p.Val329Ile) rs140340673 0.00009
NM_004817.4(TJP2):c.2034C>T (p.Asn678=) rs373160031 0.00007
NM_004817.4(TJP2):c.212C>T (p.Pro71Leu) rs142847960 0.00007
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.1035C>T (p.His345=) rs144213955 0.00006
NM_004817.4(TJP2):c.2334C>T (p.Thr778=) rs183285809 0.00006
NM_004817.4(TJP2):c.2858C>T (p.Ser953Leu) rs377218278 0.00006
NM_004817.4(TJP2):c.2880+17C>T rs778212657 0.00006
NM_004817.4(TJP2):c.61-7293C>G rs566121116 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.-5C>T rs1021636166 0.00005
NM_004817.4(TJP2):c.1336C>A (p.Pro446Thr) rs141175414 0.00005
NM_004817.4(TJP2):c.3322A>G (p.Ile1108Val) rs201835299 0.00005
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu) rs200222645 0.00005
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser) rs746223152 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.2751C>T (p.Arg917=) rs184519036 0.00004
NM_004817.4(TJP2):c.3183T>G (p.Gly1061=) rs749387422 0.00004
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln) rs748102718 0.00004
NM_004817.4(TJP2):c.1087T>C (p.Leu363=) rs1051910552 0.00003
NM_004817.4(TJP2):c.1211-4C>T rs1051968602 0.00003
NM_004817.4(TJP2):c.1475C>T (p.Pro492Leu) rs200531230 0.00003
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter) rs764379398 0.00003
NM_004817.4(TJP2):c.1995T>A (p.Ala665=) rs146741666 0.00003
NM_004817.4(TJP2):c.2457A>G (p.Gln819=) rs988720358 0.00003
NM_004817.4(TJP2):c.2824G>A (p.Glu942Lys) rs766312893 0.00003
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=) rs771190188 0.00003
NM_004817.4(TJP2):c.655C>T (p.Arg219Trp) rs750631073 0.00003
NM_004817.4(TJP2):c.1027A>G (p.Asn343Asp) rs538420656 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.2851C>T (p.Arg951Cys) rs771756670 0.00002
NM_004817.4(TJP2):c.2863C>A (p.Pro955Thr) rs1034527835 0.00002
NM_004817.4(TJP2):c.2880+40G>A rs977437125 0.00002
NM_004817.4(TJP2):c.3484G>A (p.Glu1162Lys) rs769695480 0.00002
NM_004817.4(TJP2):c.491A>G (p.His164Arg) rs749563094 0.00002
NM_004817.4(TJP2):c.630G>A (p.Ala210=) rs1004298993 0.00002
NM_004817.4(TJP2):c.631C>T (p.Arg211Cys) rs771622774 0.00002
NM_004817.4(TJP2):c.972G>T (p.Gly324=) rs372333417 0.00002
NM_004817.4(TJP2):c.1056+8G>C rs779964139 0.00001
NM_004817.4(TJP2):c.1100G>A (p.Arg367Gln) rs766299633 0.00001
NM_004817.4(TJP2):c.1138G>C (p.Val380Leu) rs1439005015 0.00001
NM_004817.4(TJP2):c.1235G>A (p.Arg412Gln) rs748959984 0.00001
NM_004817.4(TJP2):c.1490G>A (p.Arg497His) rs532438219 0.00001
NM_004817.4(TJP2):c.1561G>A (p.Val521Met) rs765095120 0.00001
NM_004817.4(TJP2):c.1571G>A (p.Arg524Gln) rs758151558 0.00001
NM_004817.4(TJP2):c.1665T>C (p.Ile555=) rs1312263380 0.00001
NM_004817.4(TJP2):c.1918G>A (p.Gly640Ser) rs747962817 0.00001
NM_004817.4(TJP2):c.1960T>C (p.Leu654=) rs765975804 0.00001
NM_004817.4(TJP2):c.215G>C (p.Gly72Ala) rs747848974 0.00001
NM_004817.4(TJP2):c.2239T>C (p.Leu747=) rs886043789 0.00001
NM_004817.4(TJP2):c.2297G>T (p.Gly766Val) rs1272933589 0.00001
NM_004817.4(TJP2):c.2372T>C (p.Leu791Pro) rs1563950539 0.00001
NM_004817.4(TJP2):c.2566G>A (p.Ala856Thr) rs1375944578 0.00001
NM_004817.4(TJP2):c.2841G>A (p.Ser947=) rs778692947 0.00001
NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys) rs201202451 0.00001
NM_004817.4(TJP2):c.3366C>T (p.Ile1122=) rs1036854780 0.00001
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=) rs745427593 0.00001
NM_004817.4(TJP2):c.3503A>G (p.Gln1168Arg) rs759725360 0.00001
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=) rs761272308 0.00001
NM_004817.4(TJP2):c.3536A>C (p.Tyr1179Ser) rs765987734 0.00001
NM_004817.4(TJP2):c.356C>A (p.Pro119His) rs1381055371 0.00001
NM_004817.4(TJP2):c.568G>A (p.Asp190Asn) rs886043873 0.00001
NM_004817.4(TJP2):c.608G>A (p.Arg203Gln) rs1355001907 0.00001
NM_004817.4(TJP2):c.61-7267A>G rs896087137 0.00001
NM_004817.4(TJP2):c.61-7308C>A rs1240349749 0.00001
NM_004817.4(TJP2):c.629C>G (p.Ala210Gly) rs773909292 0.00001
NM_004817.4(TJP2):c.812G>A (p.Arg271His) rs377314831 0.00001
NM_004817.4(TJP2):c.896C>A (p.Pro299His) rs545729848 0.00001
NM_004817.4(TJP2):c.966G>T (p.Arg322=) rs199857597 0.00001
NM_004817.4(TJP2):c.*6T>C rs1563967143
NM_004817.4(TJP2):c.1052T>A (p.Leu351His) rs1563931638
NM_004817.4(TJP2):c.1057-9T>A rs1554662271
NM_004817.4(TJP2):c.1142T>A (p.Val381Glu) rs1406324831
NM_004817.4(TJP2):c.115-10T>C rs1563919728
NM_004817.4(TJP2):c.115-7T>C rs1563919731
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.122A>G (p.Lys41Arg) rs1554659207
NM_004817.4(TJP2):c.1273GATTAT[1] (p.425DY[1]) rs1233134698
NM_004817.4(TJP2):c.1290_1292del (p.Ser432del) rs780493380
NM_004817.4(TJP2):c.1337C>A (p.Pro446Gln) rs150193775
NM_004817.4(TJP2):c.142G>A (p.Val48Met) rs769217430
NM_004817.4(TJP2):c.1433G>C (p.Arg478Thr) rs760992953
NM_004817.4(TJP2):c.1451del (p.Pro484fs) rs1554662952
NM_004817.4(TJP2):c.1454-6C>T rs1554663268
NM_004817.4(TJP2):c.1462C>A (p.Pro488Thr) rs1554663279
NM_004817.4(TJP2):c.1520+6T>C rs886044597
NM_004817.4(TJP2):c.1671+8C>T rs1563937977
NM_004817.4(TJP2):c.1697T>A (p.Leu566Ter) rs886042381
NM_004817.4(TJP2):c.1780+1G>T rs1554664852
NM_004817.4(TJP2):c.1885G>A (p.Glu629Lys) rs1563945390
NM_004817.4(TJP2):c.1886_1900del (p.Glu629_Val633del) rs1554665383
NM_004817.4(TJP2):c.1909C>T (p.Leu637=) rs768326584
NM_004817.4(TJP2):c.1923G>C (p.Lys641Asn) rs530082663
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2179G>C (p.Ala727Pro) rs1563946936
NM_004817.4(TJP2):c.229G>A (p.Gly77Arg) rs1563919994
NM_004817.4(TJP2):c.2353C>T (p.Gln785Ter) rs1563948951
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter) rs746830415
NM_004817.4(TJP2):c.2546C>G (p.Thr849Arg) rs763461861
NM_004817.4(TJP2):c.258C>T (p.Val86=) rs530810462
NM_004817.4(TJP2):c.274C>G (p.Pro92Ala) rs1563921627
NM_004817.4(TJP2):c.2880+105G>A rs536733607
NM_004817.4(TJP2):c.2880+5G>A rs1563959639
NM_004817.4(TJP2):c.2880+80G>T rs769729938
NM_004817.4(TJP2):c.2948G>A (p.Arg983Lys) rs762069397
NM_004817.4(TJP2):c.2962C>T (p.Pro988Ser) rs752183947
NM_004817.4(TJP2):c.2963C>T (p.Pro988Leu) rs886043808
NM_004817.4(TJP2):c.3067_3068delinsTT (p.Ala1023Phe) rs1554668727
NM_004817.4(TJP2):c.3104A>C (p.Tyr1035Ser) rs1220682051
NM_004817.4(TJP2):c.3138del (p.Arg1047fs) rs1563962994
NM_004817.4(TJP2):c.3140G>A (p.Arg1047Gln) rs191327525
NM_004817.4(TJP2):c.333C>T (p.Val111=) rs1428978435
NM_004817.4(TJP2):c.3408-6del rs778863371
NM_004817.4(TJP2):c.3432A>G (p.Lys1144=) rs886044296
NM_004817.4(TJP2):c.3483C>T (p.Ala1161=) rs199597127
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg) rs141496493
NM_004817.4(TJP2):c.410A>T (p.Asp137Val) rs886043413
NM_004817.4(TJP2):c.474G>A (p.Arg158=) rs1554660381
NM_004817.4(TJP2):c.498dup (p.Arg167fs) rs781334233
NM_004817.4(TJP2):c.577C>A (p.Arg193=) rs200390074
NM_004817.4(TJP2):c.61-7279del rs1452573962
NM_004817.4(TJP2):c.61-7359A>T rs1563906272
NM_004817.4(TJP2):c.61-7391A>C rs1563906183
NM_004817.4(TJP2):c.638G>A (p.Arg213Gln) rs775377668
NM_004817.4(TJP2):c.699GGACCG[3] (p.234DR[4]) rs778482810
NM_004817.4(TJP2):c.745_746delinsAT (p.Tyr249Ile) rs797044757
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) rs587777518
NM_004817.4(TJP2):c.782del (p.Tyr261fs) rs771690686
NM_004817.4(TJP2):c.817del (p.Ala273fs) rs864321697
NM_004817.4(TJP2):c.84dup (p.Trp29fs) rs1563915664
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3]) rs760152519
NM_004817.4(TJP2):c.897T>A (p.Pro299=) rs1563926830

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