ClinVar Miner

List of variants in gene TJP2 studied for Nonsyndromic Hearing Loss, Dominant

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Total variants: 60
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HGVS dbSNP
NM_004817.3(TJP2):c.1213_1215delATT (p.Ile405del) rs727504461
NM_004817.3(TJP2):c.1671+18_1671+19delCT rs1057515615
NM_004817.3(TJP2):c.2004G>A (p.Met668Ile) rs34774441
NM_004817.3(TJP2):c.2275+24delT rs749189119
NM_004817.3(TJP2):c.2727G>A (p.Ala909=) rs2095876
NM_004817.3(TJP2):c.3029C>T (p.Ser1010Phe) rs41277907
NM_004817.4(TJP2):c.*183G>A rs3812536
NM_004817.4(TJP2):c.*187G>C rs780438003
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.1093G>A (p.Asp365Asn) rs772718854
NM_004817.4(TJP2):c.1099C>T (p.Arg367Ter) rs1057515613
NM_004817.4(TJP2):c.1137A>G (p.Leu379=) rs17062695
NM_004817.4(TJP2):c.1202A>G (p.Glu401Gly) rs1057515614
NM_004817.4(TJP2):c.1350C>T (p.Ser450=) rs17062723
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) rs2309428
NM_004817.4(TJP2):c.1478G>A (p.Arg493Lys) rs41277901
NM_004817.4(TJP2):c.1520+13G>A rs759291596
NM_004817.4(TJP2):c.1593C>T (p.Val531=) rs781308072
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)
NM_004817.4(TJP2):c.1917C>T (p.Asp639=) rs12340440
NM_004817.4(TJP2):c.1960T>C (p.Leu654=) rs765975804
NM_004817.4(TJP2):c.2028A>G (p.Arg676=) rs1057515616
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.2384C>T (p.Pro795Leu) rs139867659
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.2775G>A (p.Thr925=) rs374453976
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.2819C>T (p.Pro940Leu) rs199852211
NM_004817.4(TJP2):c.2880+11G>T rs1057515618
NM_004817.4(TJP2):c.2897G>A (p.Ser966Asn) rs374359318
NM_004817.4(TJP2):c.2909G>A (p.Arg970Gln) rs150494393
NM_004817.4(TJP2):c.2937C>T (p.Ser979=) rs138333815
NM_004817.4(TJP2):c.296C>T (p.Ser99Leu) rs570616070
NM_004817.4(TJP2):c.297G>A (p.Ser99=) rs72709079
NM_004817.4(TJP2):c.2991+8G>A rs371110925
NM_004817.4(TJP2):c.2992-11G>T rs747169971
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) rs199767035
NM_004817.4(TJP2):c.3322-2A>C
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) rs376663560
NM_004817.4(TJP2):c.3407+7G>A rs369322645
NM_004817.4(TJP2):c.3408-6dup rs778863371
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
NM_004817.4(TJP2):c.508A>G (p.Ser170Gly) rs368217372
NM_004817.4(TJP2):c.582C>T (p.Asp194=) rs1057515612
NM_004817.4(TJP2):c.773A>T (p.Asp258Val) rs772937900
NM_004817.4(TJP2):c.887G>A (p.Ser296Asn) rs376434139

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