ClinVar Miner

List of variants in gene TJP2 reported by Ambry Genetics

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.1018A>G (p.Lys340Glu) rs763206171 0.00046
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr) rs139276234 0.00022
NM_004817.4(TJP2):c.2852G>A (p.Arg951His) rs368776552 0.00018
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met) rs139636763 0.00015
NM_004817.4(TJP2):c.3140G>C (p.Arg1047Pro) rs191327525 0.00013
NM_004817.4(TJP2):c.1597A>T (p.Ile533Leu) rs770295068 0.00009
NM_004817.4(TJP2):c.638G>T (p.Arg213Leu) rs775377668 0.00008
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter) rs764379398 0.00003
NM_004817.4(TJP2):c.2824G>A (p.Glu942Lys) rs766312893 0.00003
NM_004817.4(TJP2):c.3064G>A (p.Val1022Ile) rs779787233 0.00003
NM_004817.4(TJP2):c.2851C>T (p.Arg951Cys) rs771756670 0.00002
NM_004817.4(TJP2):c.2863C>A (p.Pro955Thr) rs1034527835 0.00002
NM_004817.4(TJP2):c.821G>A (p.Arg274His) rs754080705 0.00002
NM_004817.4(TJP2):c.1490G>A (p.Arg497His) rs532438219 0.00001
NM_004817.4(TJP2):c.2297G>T (p.Gly766Val) rs1272933589 0.00001
NM_004817.4(TJP2):c.3536A>C (p.Tyr1179Ser) rs765987734 0.00001
NM_004817.4(TJP2):c.608G>A (p.Arg203Gln) rs1355001907 0.00001
NM_004817.4(TJP2):c.1142T>A (p.Val381Glu) rs1406324831
NM_004817.4(TJP2):c.1180T>A (p.Ser394Thr)
NM_004817.4(TJP2):c.1337C>T (p.Pro446Leu)
NM_004817.4(TJP2):c.1393A>G (p.Ile465Val)
NM_004817.4(TJP2):c.1433G>C (p.Arg478Thr) rs760992953
NM_004817.4(TJP2):c.1625C>T (p.Thr542Ile)
NM_004817.4(TJP2):c.1628C>T (p.Ser543Leu)
NM_004817.4(TJP2):c.1673T>C (p.Val558Ala)
NM_004817.4(TJP2):c.1735C>T (p.Pro579Ser)
NM_004817.4(TJP2):c.1923G>C (p.Lys641Asn) rs530082663
NM_004817.4(TJP2):c.1949T>G (p.Ile650Ser)
NM_004817.4(TJP2):c.2027G>C (p.Arg676Thr)
NM_004817.4(TJP2):c.2051A>G (p.Asp684Gly)
NM_004817.4(TJP2):c.2144A>C (p.Lys715Thr)
NM_004817.4(TJP2):c.2217A>G (p.Ile739Met)
NM_004817.4(TJP2):c.2426T>C (p.Ile809Thr)
NM_004817.4(TJP2):c.2549G>T (p.Cys850Phe)
NM_004817.4(TJP2):c.2725G>A (p.Ala909Thr)
NM_004817.4(TJP2):c.2855C>G (p.Ser952Cys)
NM_004817.4(TJP2):c.3290T>G (p.Met1097Arg)
NM_004817.4(TJP2):c.3327A>T (p.Glu1109Asp)
NM_004817.4(TJP2):c.3415C>A (p.Pro1139Thr)
NM_004817.4(TJP2):c.3499C>T (p.Arg1167Cys)
NM_004817.4(TJP2):c.3527G>A (p.Arg1176His)
NM_004817.4(TJP2):c.3529G>A (p.Gly1177Ser)
NM_004817.4(TJP2):c.355C>A (p.Pro119Thr)
NM_004817.4(TJP2):c.377C>T (p.Ala126Val)
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg) rs141496493
NM_004817.4(TJP2):c.409G>A (p.Asp137Asn)
NM_004817.4(TJP2):c.412C>T (p.Arg138Trp)
NM_004817.4(TJP2):c.454C>T (p.Arg152Trp)
NM_004817.4(TJP2):c.490C>T (p.His164Tyr)
NM_004817.4(TJP2):c.551C>T (p.Ala184Val)
NM_004817.4(TJP2):c.568G>T (p.Asp190Tyr)
NM_004817.4(TJP2):c.578G>C (p.Arg193Pro)
NM_004817.4(TJP2):c.616G>T (p.Asp206Tyr)
NM_004817.4(TJP2):c.643C>T (p.Arg215Cys)
NM_004817.4(TJP2):c.720C>G (p.Ser240Arg)
NM_004817.4(TJP2):c.757T>C (p.Tyr253His)
NM_004817.4(TJP2):c.763C>T (p.Arg255Trp)
NM_004817.4(TJP2):c.79C>G (p.Leu27Val)
NM_004817.4(TJP2):c.823C>T (p.His275Tyr)
NM_004817.4(TJP2):c.941G>C (p.Arg314Thr)

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