ClinVar Miner

List of variants in gene TJP2 reported as pathogenic by The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University

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Total variants: 10
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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.1292C>G (p.Ser431Ter) rs1251192873
NM_004817.4(TJP2):c.1672-1G>A rs1588127136
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) rs928915940
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.2908C>T (p.Arg970Ter) rs749009273

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