ClinVar Miner

List of variants in gene TJP2 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.239+19T>C rs2498417 0.90366
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) rs2309428 0.77489
NM_004817.4(TJP2):c.2992-19G>A rs2282335 0.39706
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.1137A>G (p.Leu379=) rs17062695 0.08425
NM_004817.4(TJP2):c.3029C>T (p.Ser1010Phe) rs41277907 0.05575
NM_004817.4(TJP2):c.2004G>A (p.Met668Ile) rs34774441 0.04571
NM_004817.4(TJP2):c.2275+16T>G rs73450890 0.04139
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.342+12G>T rs7027812 0.01934
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.2778C>T (p.Asp926=) rs140442228 0.01321
NM_004817.4(TJP2):c.1478G>A (p.Arg493Lys) rs41277901 0.01317
NM_004817.4(TJP2):c.2367A>G (p.Ala789=) rs75668442 0.01213
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.1091C>T (p.Thr364Met) rs77321498 0.00629
NM_004817.4(TJP2):c.1063G>C (p.Gly355Arg) rs78681604 0.00381
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.2636A>G (p.Gln879Arg) rs75450131 0.00273
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.239+16C>T rs190537310 0.00158
NM_004817.4(TJP2):c.3342T>C (p.His1114=) rs61753629 0.00157
NM_004817.4(TJP2):c.1781-16T>C rs59088021 0.00145
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.1057-17A>G rs41277895 0.00093
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.3371C>T (p.Thr1124Met) rs376663560 0.00033
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.2726C>T (p.Ala909Val) rs146761713 0.00028
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) rs199892018 0.00024
NM_004817.4(TJP2):c.2384C>T (p.Pro795Leu) rs139867659 0.00019
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=) rs141675065 0.00019
NM_004817.4(TJP2):c.2852G>A (p.Arg951His) rs368776552 0.00018
NM_004817.4(TJP2):c.2129T>C (p.Val710Ala) rs150440380 0.00017
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.3407+7G>A rs369322645 0.00015
NM_004817.4(TJP2):c.1818G>A (p.Ser606=) rs527789195 0.00014
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.3063C>T (p.Ala1021=) rs367977493 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.2937C>T (p.Ser979=) rs138333815 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.788G>A (p.Arg263Gln) rs368849809 0.00011
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.1953G>T (p.Gly651=) rs750134026 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.2970A>G (p.Ala990=) rs727503481 0.00008
NM_004817.4(TJP2):c.638G>T (p.Arg213Leu) rs775377668 0.00008
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.23G>C (p.Gly8Ala) rs373291069 0.00007
NM_004817.4(TJP2):c.1056+15G>A rs369589888 0.00006
NM_004817.4(TJP2):c.1320-19C>T rs199943912 0.00006
NM_004817.4(TJP2):c.2334C>T (p.Thr778=) rs183285809 0.00006
NM_004817.4(TJP2):c.2880+17C>T rs778212657 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.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.1908A>C (p.Thr636=) rs747037912 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.848G>A (p.Arg283Gln) rs748102718 0.00004
NM_004817.4(TJP2):c.904C>T (p.Arg302Trp) rs397516631 0.00004
NM_004817.4(TJP2):c.190A>G (p.Ile64Val) rs1400260492 0.00003
NM_004817.4(TJP2):c.1967A>G (p.Lys656Arg) rs754878810 0.00003
NM_004817.4(TJP2):c.2457A>G (p.Gln819=) rs988720358 0.00003
NM_004817.4(TJP2):c.2493G>A (p.Thr831=) rs944668173 0.00003
NM_004817.4(TJP2):c.2750G>A (p.Arg917His) rs751606391 0.00003
NM_004817.4(TJP2):c.2943A>C (p.Gln981His) rs112917902 0.00003
NM_004817.4(TJP2):c.2992-11G>T rs747169971 0.00003
NM_004817.4(TJP2):c.3064G>A (p.Val1022Ile) rs779787233 0.00003
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=) rs771190188 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.1826T>C (p.Ile609Thr) rs929371716 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.2840C>T (p.Ser947Leu) rs756610227 0.00002
NM_004817.4(TJP2):c.1028A>G (p.Asn343Ser) rs763855572 0.00001
NM_004817.4(TJP2):c.1056+8G>C rs779964139 0.00001
NM_004817.4(TJP2):c.1093G>A (p.Asp365Asn) rs772718854 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.1780+11T>C rs758833025 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.2546del (p.Thr849fs) rs1309543056 0.00001
NM_004817.4(TJP2):c.2769A>G (p.Glu923=) rs770661556 0.00001
NM_004817.4(TJP2):c.2921G>A (p.Arg974Lys) rs746031449 0.00001
NM_004817.4(TJP2):c.3012A>G (p.Glu1004=) rs763305813 0.00001
NM_004817.4(TJP2):c.303A>G (p.Ala101=) rs756808587 0.00001
NM_004817.4(TJP2):c.3061G>A (p.Ala1021Thr) rs765214333 0.00001
NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys) rs201202451 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.413G>A (p.Arg138Gln) rs764394462 0.00001
NM_004817.4(TJP2):c.499C>T (p.Arg167Cys) rs967520708 0.00001
NM_004817.4(TJP2):c.608G>A (p.Arg203Gln) rs1355001907 0.00001
NM_004817.4(TJP2):c.853C>T (p.Arg285Cys) rs546327568 0.00001
NM_004817.4(TJP2):c.966G>T (p.Arg322=) rs199857597 0.00001
NM_004817.4(TJP2):c.1001G>A (p.Arg334Gln)
NM_004817.4(TJP2):c.1022A>G (p.Asp341Gly)
NM_004817.4(TJP2):c.1056+11G>T rs373150693
NM_004817.4(TJP2):c.1056+9A>C
NM_004817.4(TJP2):c.1090A>G (p.Thr364Ala)
NM_004817.4(TJP2):c.1139T>C (p.Val380Ala)
NM_004817.4(TJP2):c.1141G>A (p.Val381Met) rs2133314809
NM_004817.4(TJP2):c.1202A>G (p.Glu401Gly) rs1057515614
NM_004817.4(TJP2):c.1211-16T>G
NM_004817.4(TJP2):c.1211-18T>A
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.1265A>G (p.Gln422Arg) rs144928091
NM_004817.4(TJP2):c.1320-18G>A
NM_004817.4(TJP2):c.1338G>A (p.Pro446=)
NM_004817.4(TJP2):c.1362G>A (p.Ala454=)
NM_004817.4(TJP2):c.1438_1454del (p.Gln480fs) rs1829487527
NM_004817.4(TJP2):c.1443G>A (p.Glu481=)
NM_004817.4(TJP2):c.1453+16C>T
NM_004817.4(TJP2):c.1453+17A>C
NM_004817.4(TJP2):c.147C>T (p.Ser49=)
NM_004817.4(TJP2):c.1501G>A (p.Glu501Lys) rs747100913
NM_004817.4(TJP2):c.1520+12C>T
NM_004817.4(TJP2):c.1520+19C>G
NM_004817.4(TJP2):c.1520+21_1520+22del
NM_004817.4(TJP2):c.1521-7A>C rs373242928
NM_004817.4(TJP2):c.1521-7A>G rs373242928
NM_004817.4(TJP2):c.1567C>G (p.Leu523Val) rs2133343173
NM_004817.4(TJP2):c.1585A>G (p.Asn529Asp) rs1016967366
NM_004817.4(TJP2):c.1672-17T>G
NM_004817.4(TJP2):c.1713C>A (p.Ala571=) rs376280878
NM_004817.4(TJP2):c.1776C>T (p.Ala592=)
NM_004817.4(TJP2):c.1777G>T (p.Asp593Tyr)
NM_004817.4(TJP2):c.1780+6C>A
NM_004817.4(TJP2):c.1781-19C>T
NM_004817.4(TJP2):c.1794C>T (p.Ile598=)
NM_004817.4(TJP2):c.1825A>G (p.Ile609Val)
NM_004817.4(TJP2):c.1880del (p.Arg627fs)
NM_004817.4(TJP2):c.1885dup (p.Glu629fs) rs1830170589
NM_004817.4(TJP2):c.1929C>T (p.Gly643=)
NM_004817.4(TJP2):c.194T>C (p.Val65Ala)
NM_004817.4(TJP2):c.1991+12C>T
NM_004817.4(TJP2):c.1992-15G>A
NM_004817.4(TJP2):c.1992-16del
NM_004817.4(TJP2):c.2016A>G (p.Gln672=)
NM_004817.4(TJP2):c.205G>A (p.Val69Met)
NM_004817.4(TJP2):c.2065C>T (p.Arg689Cys)
NM_004817.4(TJP2):c.2181T>C (p.Ala727=)
NM_004817.4(TJP2):c.2208C>T (p.Phe736=)
NM_004817.4(TJP2):c.220C>T (p.Pro74Ser)
NM_004817.4(TJP2):c.2275+24dup rs749189119
NM_004817.4(TJP2):c.2276-20T>G
NM_004817.4(TJP2):c.2345T>C (p.Ile782Thr)
NM_004817.4(TJP2):c.2355+14T>A
NM_004817.4(TJP2):c.239+12C>G
NM_004817.4(TJP2):c.239+14del rs764370644
NM_004817.4(TJP2):c.2451C>T (p.Ser817=)
NM_004817.4(TJP2):c.2546C>G (p.Thr849Arg) rs763461861
NM_004817.4(TJP2):c.2553A>C (p.Ala851=) rs763701380
NM_004817.4(TJP2):c.2567-4A>G rs371917205
NM_004817.4(TJP2):c.2584T>C (p.Ser862Pro)
NM_004817.4(TJP2):c.258C>G (p.Val86=)
NM_004817.4(TJP2):c.258C>T (p.Val86=) rs530810462
NM_004817.4(TJP2):c.2653G>A (p.Val885Ile)
NM_004817.4(TJP2):c.2668-12A>G
NM_004817.4(TJP2):c.2668-15C>T
NM_004817.4(TJP2):c.2706C>G (p.Ser902=)
NM_004817.4(TJP2):c.2716G>A (p.Ala906Thr) rs894332443
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu) rs199852211
NM_004817.4(TJP2):c.2866G>C (p.Val956Leu)
NM_004817.4(TJP2):c.2869C>T (p.Gln957Ter)
NM_004817.4(TJP2):c.2874C>T (p.His958=)
NM_004817.4(TJP2):c.2880+15G>T
NM_004817.4(TJP2):c.2880+3GAGGC[3]
NM_004817.4(TJP2):c.2880+4A>G rs727505327
NM_004817.4(TJP2):c.2881-2A>G
NM_004817.4(TJP2):c.2885del (p.Ile962fs)
NM_004817.4(TJP2):c.288G>A (p.Val96=) rs2133251607
NM_004817.4(TJP2):c.2979A>T (p.Pro993=)
NM_004817.4(TJP2):c.2984C>T (p.Pro995Leu)
NM_004817.4(TJP2):c.2991+17_2991+30del
NM_004817.4(TJP2):c.2991+18_2991+31del
NM_004817.4(TJP2):c.2991+20A>G
NM_004817.4(TJP2):c.2992-5C>T
NM_004817.4(TJP2):c.3141G>T (p.Arg1047=)
NM_004817.4(TJP2):c.3238G>A (p.Gly1080Ser)
NM_004817.4(TJP2):c.3243A>T (p.Lys1081Asn)
NM_004817.4(TJP2):c.3296A>C (p.Glu1099Ala)
NM_004817.4(TJP2):c.3376_3387del (p.Lys1126_Pro1129del) rs1563965205
NM_004817.4(TJP2):c.3393G>A (p.Thr1131=)
NM_004817.4(TJP2):c.3408-12T>A
NM_004817.4(TJP2):c.3408-17C>T
NM_004817.4(TJP2):c.3408-6del rs778863371
NM_004817.4(TJP2):c.3415C>T (p.Pro1139Ser) rs371868714
NM_004817.4(TJP2):c.342+16G>A
NM_004817.4(TJP2):c.3450T>C (p.Tyr1150=) rs779575464
NM_004817.4(TJP2):c.3463G>C (p.Gly1155Arg) rs200425899
NM_004817.4(TJP2):c.3471T>C (p.Tyr1157=)
NM_004817.4(TJP2):c.3483C>A (p.Ala1161=)
NM_004817.4(TJP2):c.3549C>T (p.Ala1183=)
NM_004817.4(TJP2):c.3551G>A (p.Arg1184Gln)
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg) rs141496493
NM_004817.4(TJP2):c.454C>T (p.Arg152Trp)
NM_004817.4(TJP2):c.464_473del (p.Gly154_Tyr155insTer) rs2133270267
NM_004817.4(TJP2):c.494G>C (p.Gly165Ala)
NM_004817.4(TJP2):c.4_11dup (p.Gly5fs)
NM_004817.4(TJP2):c.520A>G (p.Ser174Gly)
NM_004817.4(TJP2):c.547C>A (p.Arg183=)
NM_004817.4(TJP2):c.566G>A (p.Arg189Gln)
NM_004817.4(TJP2):c.590_601del (p.Arg197_Ser200del) rs749616153
NM_004817.4(TJP2):c.619C>T (p.Gln207Ter)
NM_004817.4(TJP2):c.629C>T (p.Ala210Val)
NM_004817.4(TJP2):c.637C>T (p.Arg213Ter)
NM_004817.4(TJP2):c.638G>A (p.Arg213Gln) rs775377668
NM_004817.4(TJP2):c.648C>T (p.Ser216=)
NM_004817.4(TJP2):c.658A>C (p.Ser220Arg)
NM_004817.4(TJP2):c.659G>A (p.Ser220Asn)
NM_004817.4(TJP2):c.673C>A (p.Leu225Met)
NM_004817.4(TJP2):c.723C>T (p.Arg241=)
NM_004817.4(TJP2):c.766del (p.Ala256fs)
NM_004817.4(TJP2):c.81G>A (p.Leu27=)
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3]) rs760152519
NM_004817.4(TJP2):c.894G>C (p.Glu298Asp)
NM_004817.4(TJP2):c.899G>A (p.Arg300Lys) rs762140391
NM_004817.4(TJP2):c.939C>T (p.Ser313=)
NM_004817.4(TJP2):c.945G>A (p.Ala315=)
NM_004817.4(TJP2):c.945G>T (p.Ala315=)
NM_004817.4(TJP2):c.952+1_952+732del
NM_004817.4(TJP2):c.953-18_953-16delinsATCTCCTAGAGTATGTTTGTCTAGGAGACAAAGTATATACTAGAGTATA rs759354372
NM_004817.4(TJP2):c.953-1G>A
NM_004817.4(TJP2):c.953-9G>T

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