ClinVar Miner

List of variants in gene TJP2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Total variants: 15
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HGVS dbSNP
NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs) rs1554669525
NM_004817.4(TJP2):c.1056+2T>C rs1278244243
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn) rs1060499649
NM_004817.4(TJP2):c.1243del (p.Ser415fs) rs1057518679
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505
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.811_812CG[1] (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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