ClinVar Miner

List of variants in gene TJP2 reported as pathogenic for not provided

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Total variants: 16
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NM_004817.4(TJP2):c.1438_1454del (p.Gln480fs)
NM_004817.4(TJP2):c.1451del (p.Pro484fs) rs1554662952
NM_004817.4(TJP2):c.1697T>A (p.Leu566Ter) rs886042381
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter) rs764379398
NM_004817.4(TJP2):c.1780+1G>T rs1554664852
NM_004817.4(TJP2):c.1885dup (p.Glu629fs)
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2353C>T (p.Gln785Ter) rs1563948951
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter) rs746830415
NM_004817.4(TJP2):c.464_473del (p.Gly154_Tyr155insTer)
NM_004817.4(TJP2):c.498dup (p.Arg167fs) rs781334233
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) rs886041948
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) rs587777518
NM_004817.4(TJP2):c.782del (p.Tyr261fs) rs771690686
NM_004817.4(TJP2):c.817del (p.Ala273fs) rs864321697
NM_004817.4(TJP2):c.84dup (p.Trp29fs) rs1563915664

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