ClinVar Miner

List of variants in gene TJP2 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 60
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HGVS dbSNP
NM_001170414.2(TJP2):c.116C>T (p.Thr39Met) rs138241615
NM_001170416.1(TJP2):c.43G>C (p.Val15Leu) rs73450853
NM_001170416.1(TJP2):c.68G>C (p.Gly23Ala) rs371868876
NM_004817.3(TJP2):c.1213_1215delATT (p.Ile405del) rs727504461
NM_004817.3(TJP2):c.1444delG (p.Asp482Thrfs) rs727503479
NM_004817.3(TJP2):c.2004G>A (p.Met668Ile) rs34774441
NM_004817.3(TJP2):c.2727G>A (p.Ala909=) rs2095876
NM_004817.3(TJP2):c.2970A>G (p.Ala990=) rs727503481
NM_004817.3(TJP2):c.2987C>T (p.Pro996Leu) rs727504634
NM_004817.3(TJP2):c.2992-8C>T rs143965233
NM_004817.3(TJP2):c.3029C>T (p.Ser1010Phe) rs41277907
NM_004817.3(TJP2):c.3063C>T (p.Ala1021=) rs367977493
NM_004817.3(TJP2):c.3190G>T (p.Val1064Leu) rs199892018
NM_004817.4(TJP2):c.1035C>A (p.His345Gln) rs144213955
NM_004817.4(TJP2):c.1091C>T (p.Thr364Met) rs77321498
NM_004817.4(TJP2):c.1137A>G (p.Leu379=) rs17062695
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505
NM_004817.4(TJP2):c.1350C>T (p.Ser450=) rs17062723
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) rs2309428
NM_004817.4(TJP2):c.1478G>A (p.Arg493Lys) rs41277901
NM_004817.4(TJP2):c.1521-7A>C rs373242928
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553
NM_004817.4(TJP2):c.1917C>T (p.Asp639=) rs12340440
NM_004817.4(TJP2):c.2040G>A (p.Gly680=) rs111723895
NM_004817.4(TJP2):c.2129T>C (p.Val710Ala) rs150440380
NM_004817.4(TJP2):c.2131T>C (p.Ser711Pro) rs35797487
NM_004817.4(TJP2):c.2137A>G (p.Ser713Gly) rs116545275
NM_004817.4(TJP2):c.2367A>G (p.Ala789=) rs75668442
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) rs75450131
NM_004817.4(TJP2):c.2646G>A (p.Ala882=) rs11788754
NM_004817.4(TJP2):c.2691C>T (p.Pro897=) rs149969431
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) rs149659876
NM_004817.4(TJP2):c.2778C>T (p.Asp926=) rs140442228
NM_004817.4(TJP2):c.2810T>C (p.Leu937Pro) rs28556975
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu) rs199852211
NM_004817.4(TJP2):c.2858C>T (p.Ser953Leu) rs377218278
NM_004817.4(TJP2):c.2859G>T (p.Ser953=) rs369972534
NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu) rs769636686
NM_004817.4(TJP2):c.2865G>A (p.Pro955=) rs727503480
NM_004817.4(TJP2):c.2880+19C>T rs200384355
NM_004817.4(TJP2):c.2880+4A>G rs727505327
NM_004817.4(TJP2):c.2880+72G>A rs397516632
NM_004817.4(TJP2):c.2880+95A>G rs77236826
NM_004817.4(TJP2):c.297G>A (p.Ser99=) rs72709079
NM_004817.4(TJP2):c.322A>T (p.Ser108Cys) rs727504668
NM_004817.4(TJP2):c.3342T>C (p.His1114=) rs61753629
NM_004817.4(TJP2):c.3407+3A>G rs727505291
NM_004817.4(TJP2):c.3407+7G>A rs369322645
NM_004817.4(TJP2):c.342+12G>T rs7027812
NM_004817.4(TJP2):c.3495G>A (p.Glu1165=) rs111595785
NM_004817.4(TJP2):c.3500G>A (p.Arg1167His) rs370985421
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln) rs201144827
NM_004817.4(TJP2):c.382C>A (p.Gln128Lys) rs41305539
NM_004817.4(TJP2):c.61-6A>T rs200415824
NM_004817.4(TJP2):c.61-7316G>A rs4493966
NM_004817.4(TJP2):c.644G>A (p.Arg215His) rs201977617
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816
NM_004817.4(TJP2):c.904C>T (p.Arg302Trp) rs397516631
NM_004817.4(TJP2):c.918C>T (p.Ile306=) rs374523970

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