ClinVar Miner

List of variants in gene TJP2 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) rs2309428 0.77489
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.1137A>G (p.Leu379=) rs17062695 0.08425
NM_004817.4(TJP2):c.2880+95A>G rs77236826 0.07154
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.61-7316G>A rs4493966 0.04221
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.61-7344G>C rs73450853 0.00547
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.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.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.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) rs199892018 0.00024
NM_004817.4(TJP2):c.2129T>C (p.Val710Ala) rs150440380 0.00017
NM_004817.4(TJP2):c.3407+7G>A rs369322645 0.00015
NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu) rs769636686 0.00013
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=) rs367977493 0.00013
NM_004817.4(TJP2):c.61-7319G>C rs371868876 0.00013
NM_004817.4(TJP2):c.2880+72G>A rs397516632 0.00010
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.3407+3A>G rs727505291 0.00007
NM_004817.4(TJP2):c.2858C>T (p.Ser953Leu) rs377218278 0.00006
NM_004817.4(TJP2):c.904C>T (p.Arg302Trp) rs397516631 0.00004
NM_004817.4(TJP2):c.2987C>T (p.Pro996Leu) rs727504634 0.00003
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln) rs201144827 0.00003
NM_004817.4(TJP2):c.322A>T (p.Ser108Cys) rs727504668 0.00001
NM_004817.4(TJP2):c.1035C>A (p.His345Gln) rs144213955
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.1444del (p.Asp482fs) rs727503479
NM_004817.4(TJP2):c.1521-7A>C rs373242928
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu) rs199852211
NM_004817.4(TJP2):c.2865G>A (p.Pro955=) rs727503480
NM_004817.4(TJP2):c.2880+4A>G rs727505327
NM_004817.4(TJP2):c.3500G>A (p.Arg1167His) rs370985421

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