ClinVar Miner

List of variants in gene TJP2 reported as likely benign for Nonsyndromic Hearing Loss, Dominant

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Total variants: 27
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HGVS dbSNP
NM_004817.4(TJP2):c.*183G>A rs3812536
NM_004817.4(TJP2):c.*370G>C rs116341259
NM_004817.4(TJP2):c.*620A>T rs4558
NM_004817.4(TJP2):c.*633A>G rs11548278
NM_004817.4(TJP2):c.*695G>C rs11548276
NM_004817.4(TJP2):c.*729G>A rs1804895
NM_004817.4(TJP2):c.1091C>T (p.Thr364Met) rs77321498
NM_004817.4(TJP2):c.1137A>G (p.Leu379=) rs17062695
NM_004817.4(TJP2):c.1350C>T (p.Ser450=) rs17062723
NM_004817.4(TJP2):c.1478G>A (p.Arg493Lys) rs41277901
NM_004817.4(TJP2):c.1917C>T (p.Asp639=) rs12340440
NM_004817.4(TJP2):c.2004G>A (p.Met668Ile) rs34774441
NM_004817.4(TJP2):c.2040G>A (p.Gly680=) rs111723895
NM_004817.4(TJP2):c.2131T>C (p.Ser711Pro) rs35797487
NM_004817.4(TJP2):c.2137A>G (p.Ser713Gly) rs116545275
NM_004817.4(TJP2):c.2367A>G (p.Ala789=) rs75668442
NM_004817.4(TJP2):c.2646G>A (p.Ala882=) rs11788754
NM_004817.4(TJP2):c.2691C>T (p.Pro897=) rs149969431
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336
NM_004817.4(TJP2):c.2727G>A (p.Ala909=) rs2095876
NM_004817.4(TJP2):c.2778C>T (p.Asp926=) rs140442228
NM_004817.4(TJP2):c.2810T>C (p.Leu937Pro) rs28556975
NM_004817.4(TJP2):c.297G>A (p.Ser99=) rs72709079
NM_004817.4(TJP2):c.3029C>T (p.Ser1010Phe) rs41277907
NM_004817.4(TJP2):c.342+12G>T rs7027812
NM_004817.4(TJP2):c.3495G>A (p.Glu1165=) rs111595785
NM_004817.4(TJP2):c.382C>A (p.Gln128Lys) rs41305539

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