ClinVar Miner

List of variants in gene TJP2 reported by GeneDx

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Gene type:
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Total variants: 36
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HGVS dbSNP
NM_004817.4(TJP2):c.-26G>A rs147729271
NM_004817.4(TJP2):c.1005G>A (p.Thr335=) rs140444730
NM_004817.4(TJP2):c.1056+2T>C rs1278244243
NM_004817.4(TJP2):c.1056+73C>A rs17062682
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.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.1557C>T (p.Asp519=) rs1461192304
NM_004817.4(TJP2):c.1780+78G>C rs78326540
NM_004817.4(TJP2):c.1917C>T (p.Asp639=) rs12340440
NM_004817.4(TJP2):c.2004G>A (p.Met668Ile) rs34774441
NM_004817.4(TJP2):c.2040G>A (p.Gly680=) rs111723895
NM_004817.4(TJP2):c.2131T>C (p.Ser711Pro) rs35797487
NM_004817.4(TJP2):c.2632C>T (p.Gln878Ter) rs1554667607
NM_004817.4(TJP2):c.2646G>A (p.Ala882=) rs11788754
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336
NM_004817.4(TJP2):c.2727G>A (p.Ala909=) rs2095876
NM_004817.4(TJP2):c.2778C>T (p.Asp926=) rs140442228
NM_004817.4(TJP2):c.297G>A (p.Ser99=) rs72709079
NM_004817.4(TJP2):c.2992-8C>T rs143965233
NM_004817.4(TJP2):c.3029C>T (p.Ser1010Phe) rs41277907
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) rs199892018
NM_004817.4(TJP2):c.3225C>T (p.Pro1075=) rs146241989
NM_004817.4(TJP2):c.3342T>C (p.His1114=) rs61753629
NM_004817.4(TJP2):c.3407+45A>G rs41277913
NM_004817.4(TJP2):c.342+12G>T rs7027812
NM_004817.4(TJP2):c.3495G>A (p.Glu1165=) rs111595785
NM_004817.4(TJP2):c.382C>A (p.Gln128Lys) rs41305539
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) rs886041948
NM_004817.4(TJP2):c.590_601del (p.Arg197_Ser200del) rs749616153
NM_004817.4(TJP2):c.60+39CGTGAG[3] rs59568063
NM_004817.4(TJP2):c.61-7316G>A rs4493966
NM_004817.4(TJP2):c.61-7A>G rs755087942
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816

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