ClinVar Miner

List of variants in gene TJP2 reported as pathogenic

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Gene type:
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Total variants: 24
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HGVS dbSNP
NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup
NC_000009.11:g.71704982_71840362dup
NC_000009.11:g.71705804_71974823invdup
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs) rs1554669525
NM_004817.4(TJP2):c.1243del (p.Ser415fs) rs1057518679
NM_004817.4(TJP2):c.1361del (p.Ala454fs) rs587777520
NM_004817.4(TJP2):c.143T>C (p.Val48Ala) rs121918299
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)
NM_004817.4(TJP2):c.1780+1G>T rs1554664852
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2353C>T (p.Gln785Ter) rs1563948951
NM_004817.4(TJP2):c.2438dup (p.Asn814fs) rs776869985
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter)
NM_004817.4(TJP2):c.2668-1G>T rs864321695
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.811_812CG[1] (p.Ala273fs) rs1554660803
NM_004817.4(TJP2):c.817del (p.Ala273fs) rs864321697
NM_004817.4(TJP2):c.84dup (p.Trp29fs) rs1563915664
NM_004817.4(TJP2):c.885del (p.Ser296fs) rs587777519

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