ClinVar Miner

List of variants in gene TJP2 reported as likely pathogenic

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Total variants: 14
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HGVS dbSNP
NM_004817.4(TJP2):c.1001del (p.Arg334fs) rs786205659
NM_004817.4(TJP2):c.1056+2T>C rs1278244243
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn) rs1060499649
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser) rs1588117076
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615
NM_004817.4(TJP2):c.2180-5T>G rs1588135086
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) rs139314808
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer)
NM_004817.4(TJP2):c.2355+1G>T
NM_004817.4(TJP2):c.236T>G (p.Leu79Arg) rs1588081022
NM_004817.4(TJP2):c.239+1G>A
NM_004817.4(TJP2):c.2632C>T (p.Gln878Ter) rs1554667607
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) rs376663560
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) rs886041948

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