ClinVar Miner

List of variants in gene TJP2 reported as pathogenic for biliary tract disorder

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) rs139314808 0.00002
NM_004817.4(TJP2):c.1594G>A (p.Gly532Arg) rs748191387 0.00001
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) rs928915940 0.00001
NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter) rs748671901 0.00001
NM_004817.4(TJP2):c.2372T>C (p.Leu791Pro) rs1563950539 0.00001
NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter) rs749009273 0.00001
NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup
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.1157del (p.Gln386fs) rs2133314949
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.1672-1G>A rs1588127136
NM_004817.4(TJP2):c.1765C>T (p.Gln589Ter)
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2071C>T (p.Gln691Ter)
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer) rs1830379007
NM_004817.4(TJP2):c.239+1G>A rs749237210
NM_004817.4(TJP2):c.2438dup (p.Asn814fs) rs776869985
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter) rs1830481830
NM_004817.4(TJP2):c.2645_2646dup (p.Val883fs) rs2133456150
NM_004817.4(TJP2):c.2668-1G>T rs864321695
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter) rs1225374015
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.885del (p.Ser296fs) rs587777519

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