ClinVar Miner

List of variants in gene TJP2 reported as uncertain significance for not specified

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.61-6A>T rs200415824 0.00145
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_004817.4(TJP2):c.2129T>C (p.Val710Ala) rs150440380 0.00017
NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu) rs769636686 0.00013
NM_004817.4(TJP2):c.61-7319G>C rs371868876 0.00013
NM_004817.4(TJP2):c.2858C>T (p.Ser953Leu) rs377218278 0.00006
NM_004817.4(TJP2):c.904C>T (p.Arg302Trp) rs397516631 0.00004
NM_004817.4(TJP2):c.2987C>T (p.Pro996Leu) rs727504634 0.00003
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln) rs201144827 0.00003
NM_004817.4(TJP2):c.322A>T (p.Ser108Cys) rs727504668 0.00001
NM_004817.4(TJP2):c.1035C>A (p.His345Gln) rs144213955
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.1444del (p.Asp482fs) rs727503479
NM_004817.4(TJP2):c.2880+4A>G rs727505327
NM_004817.4(TJP2):c.3500G>A (p.Arg1167His) rs370985421

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