ClinVar Miner

List of variants in gene TJP2 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.1780+78G>C rs78326540 0.03404
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.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.2668-30C>T rs113671582 0.01353
NM_004817.4(TJP2):c.2668-249G>A rs11789323 0.01321
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.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.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.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.2992-8C>T rs143965233 0.00327
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.1057-17A>G rs41277895 0.00093
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.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.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.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.2384C>T (p.Pro795Leu) rs139867659 0.00019
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=) rs141675065 0.00019
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.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.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.2880+72G>A rs397516632 0.00010
NM_004817.4(TJP2):c.2961G>A (p.Pro987=) rs371617466 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.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.2034C>T (p.Asn678=) rs373160031 0.00007
NM_004817.4(TJP2):c.212C>T (p.Pro71Leu) rs142847960 0.00007
NM_004817.4(TJP2):c.3407+3A>G rs727505291 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.911G>A (p.Gly304Glu) rs200222645 0.00005
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.3183T>G (p.Gly1061=) rs749387422 0.00004
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln) rs748102718 0.00004
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.2992-11G>T rs747169971 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.1053C>T (p.Leu351=) rs1056969112 0.00002
NM_004817.4(TJP2):c.1557C>T (p.Asp519=) rs1461192304 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.972G>T (p.Gly324=) rs372333417 0.00002
NM_004817.4(TJP2):c.1056+8G>C rs779964139 0.00001
NM_004817.4(TJP2):c.1780+11T>C rs758833025 0.00001
NM_004817.4(TJP2):c.1884G>A (p.Gly628=) rs1327034450 0.00001
NM_004817.4(TJP2):c.2239T>C (p.Leu747=) rs886043789 0.00001
NM_004817.4(TJP2):c.2769A>G (p.Glu923=) rs770661556 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.3076G>A (p.Glu1026Lys) rs201202451 0.00001
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=) rs745427593 0.00001
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=) rs761272308 0.00001
NM_004817.4(TJP2):c.3528C>T (p.Arg1176=) rs147675640 0.00001
NM_004817.4(TJP2):c.61-7267A>G rs896087137 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.1056+11G>T rs373150693
NM_004817.4(TJP2):c.1056+9A>C
NM_004817.4(TJP2):c.115-304G>A rs79422901
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.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.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.1672-17T>G
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.1710T>C (p.Asp570=)
NM_004817.4(TJP2):c.1713C>A (p.Ala571=) rs376280878
NM_004817.4(TJP2):c.1776C>T (p.Ala592=)
NM_004817.4(TJP2):c.1781-19C>T
NM_004817.4(TJP2):c.1794C>T (p.Ile598=)
NM_004817.4(TJP2):c.1929C>T (p.Gly643=)
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.2027G>C (p.Arg676Thr)
NM_004817.4(TJP2):c.2136C>G (p.Val712=)
NM_004817.4(TJP2):c.2181T>C (p.Ala727=)
NM_004817.4(TJP2):c.2208C>T (p.Phe736=)
NM_004817.4(TJP2):c.2276-20T>G
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.2553A>C (p.Ala851=) rs763701380
NM_004817.4(TJP2):c.2567-4A>G rs371917205
NM_004817.4(TJP2):c.258C>G (p.Val86=)
NM_004817.4(TJP2):c.258C>T (p.Val86=) rs530810462
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.2819C>T (p.Pro940Leu) rs199852211
NM_004817.4(TJP2):c.2823C>T (p.Ala941=)
NM_004817.4(TJP2):c.2865G>A (p.Pro955=) rs727503480
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.288G>A (p.Val96=) rs2133251607
NM_004817.4(TJP2):c.2979A>T (p.Pro993=)
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.3235C>T (p.Leu1079=)
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.3408-6dup rs778863371
NM_004817.4(TJP2):c.342+16G>A
NM_004817.4(TJP2):c.3423G>A (p.Glu1141=)
NM_004817.4(TJP2):c.3450T>C (p.Tyr1150=) rs779575464
NM_004817.4(TJP2):c.3471T>C (p.Tyr1157=)
NM_004817.4(TJP2):c.3483C>A (p.Ala1161=)
NM_004817.4(TJP2):c.3528C>G (p.Arg1176=)
NM_004817.4(TJP2):c.3549C>T (p.Ala1183=)
NM_004817.4(TJP2):c.357C>T (p.Pro119=)
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg) rs141496493
NM_004817.4(TJP2):c.547C>A (p.Arg183=)
NM_004817.4(TJP2):c.55C>T (p.Leu19Phe)
NM_004817.4(TJP2):c.60+7G>C
NM_004817.4(TJP2):c.639A>C (p.Arg213=)
NM_004817.4(TJP2):c.648C>T (p.Ser216=)
NM_004817.4(TJP2):c.699G>A (p.Arg233=)
NM_004817.4(TJP2):c.723C>T (p.Arg241=)
NM_004817.4(TJP2):c.801G>A (p.Pro267=)
NM_004817.4(TJP2):c.819C>T (p.Ala273=)
NM_004817.4(TJP2):c.81G>A (p.Leu27=)
NM_004817.4(TJP2):c.825C>T (p.His275=)
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.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+74del rs113816166
NM_004817.4(TJP2):c.953-9G>T

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