ClinVar Miner

List of variants in gene TJP2 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 12
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HGVS dbSNP
NM_004817.3(TJP2):c.1451delC (p.Pro484Glnfs) rs1554662952
NM_004817.3(TJP2):c.498dupG (p.Arg167Alafs) rs781334233
NM_004817.3(TJP2):c.766_769del (p.Ala256Thrfs) rs587777518
NM_004817.3(TJP2):c.782delA (p.Tyr261Serfs) rs771690686
NM_004817.3(TJP2):c.817delG (p.Ala273Profs) rs864321697
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)
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter)
NM_004817.4(TJP2):c.84dup (p.Trp29Metfs)

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