ClinVar Miner

List of variants in gene TJP2 reported as pathogenic

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Total variants: 39
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HGVS dbSNP
9q21.11 duplication
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)
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter) rs1182781290
NM_004817.4(TJP2):c.115-1G>A rs1588080680
NM_004817.4(TJP2):c.115-2A>C rs1588080674
NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter) rs777460754
NM_004817.4(TJP2):c.1243del (p.Ser415fs) rs1057518679
NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter) rs1251192873
NM_004817.4(TJP2):c.1361del (p.Ala454fs) rs587777520
NM_004817.4(TJP2):c.1438_1454del (p.Gln480fs)
NM_004817.4(TJP2):c.143T>C (p.Val48Ala) rs121918299
NM_004817.4(TJP2):c.1451del (p.Pro484fs) rs1554662952
NM_004817.4(TJP2):c.1672-1G>A rs1588127136
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.1894C>T (p.Arg632Ter) rs928915940
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter) rs748671901
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) rs139314808
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) rs746830415
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter)
NM_004817.4(TJP2):c.2668-1G>T rs864321695
NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter) rs749009273
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.813_814del (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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