ClinVar Miner

List of variants in gene TJP2 reported by OMIM

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Total variants: 8
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HGVS dbSNP
NM_004817.4(TJP2):c.1361del (p.Ala454fs) rs587777520
NM_004817.4(TJP2):c.143T>C (p.Val48Ala) rs121918299
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2438dup (p.Asn814fs) rs776869985
NM_004817.4(TJP2):c.2668-1G>T rs864321695
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) rs587777518
NM_004817.4(TJP2):c.817del (p.Ala273fs) rs864321697
NM_004817.4(TJP2):c.885del (p.Ser296fs) rs587777519

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