ClinVar Miner

List of variants in gene TJP2 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
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.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.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.2335G>A (p.Val779Met) rs145368713 0.00012
NM_004817.4(TJP2):c.2909G>A (p.Arg970Gln) rs150494393 0.00011
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.1597A>T (p.Ile533Leu) rs770295068 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.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.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.3115G>A (p.Val1039Ile) rs774645374 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.877C>T (p.Arg293Trp) rs189916909 0.00003
NM_004817.4(TJP2):c.1027A>G (p.Asn343Asp) rs538420656 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.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.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.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.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.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.2230A>G (p.Met744Val) rs749647498
NM_004817.4(TJP2):c.2323C>T (p.Arg775Trp)
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.2572A>G (p.Ile858Val)
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.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.3325G>A (p.Glu1109Lys) rs1225374015
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.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.590_601del (p.Arg197_Ser200del) rs749616153
NM_004817.4(TJP2):c.599G>T (p.Ser200Ile) rs373944275
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.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.850AGCCGC[3] (p.284SR[3]) rs760152519

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