ClinVar Miner

List of variants in gene TJAP1 reported as uncertain significance for not specified

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001350562.2(TJAP1):c.1466C>T (p.Pro489Leu) rs145497550 0.00023
NM_001350562.2(TJAP1):c.1008G>T (p.Glu336Asp) rs367871522 0.00007
NM_001350562.2(TJAP1):c.1115C>T (p.Pro372Leu) rs772444884 0.00007
NM_001350562.2(TJAP1):c.142G>A (p.Glu48Lys) rs148303279 0.00007
NM_001350562.2(TJAP1):c.1486C>T (p.Arg496Cys) rs148726277 0.00007
NM_001350562.2(TJAP1):c.569A>G (p.Lys190Arg) rs376753394 0.00005
NM_001350562.2(TJAP1):c.1247G>A (p.Arg416Gln) rs149804539 0.00002
NM_001350562.2(TJAP1):c.1487G>A (p.Arg496His) rs200162440 0.00002
NM_001350562.2(TJAP1):c.1589G>A (p.Arg530His) rs1792241052 0.00002
NM_001350562.2(TJAP1):c.1643A>G (p.Gln548Arg) rs746029494 0.00001
NM_001350562.2(TJAP1):c.194C>T (p.Ala65Val) rs780420679 0.00001
NM_001350562.2(TJAP1):c.253C>T (p.Arg85Cys) rs141607775 0.00001
NM_001350562.2(TJAP1):c.268A>G (p.Lys90Glu) rs1213051446 0.00001
NM_001350562.2(TJAP1):c.434T>C (p.Val145Ala) rs1288318271 0.00001
NM_001350562.2(TJAP1):c.757G>A (p.Gly253Arg) rs151036953 0.00001
NM_001350562.2(TJAP1):c.851C>T (p.Thr284Ile) rs766891582 0.00001
NM_001350562.2(TJAP1):c.962C>T (p.Pro321Leu) rs780017622 0.00001
NM_001350562.2(TJAP1):c.1088T>C (p.Val363Ala)
NM_001350562.2(TJAP1):c.1112G>T (p.Arg371Leu) rs7767260
NM_001350562.2(TJAP1):c.119A>G (p.Glu40Gly)
NM_001350562.2(TJAP1):c.1204A>G (p.Ser402Gly) rs1281615118
NM_001350562.2(TJAP1):c.1292G>A (p.Arg431His)
NM_001350562.2(TJAP1):c.1382C>G (p.Ser461Cys) rs774241829
NM_001350562.2(TJAP1):c.1397A>T (p.Glu466Val)
NM_001350562.2(TJAP1):c.1471A>G (p.Ser491Gly) rs1314341821
NM_001350562.2(TJAP1):c.1521G>C (p.Glu507Asp) rs776325976
NM_001350562.2(TJAP1):c.1523A>G (p.Glu508Gly)
NM_001350562.2(TJAP1):c.1540C>A (p.His514Asn) rs369536388
NM_001350562.2(TJAP1):c.1576A>C (p.Ser526Arg)
NM_001350562.2(TJAP1):c.161G>T (p.Arg54Leu) rs376480261
NM_001350562.2(TJAP1):c.1642C>G (p.Gln548Glu)
NM_001350562.2(TJAP1):c.1645G>T (p.Ala549Ser) rs2482788468
NM_001350562.2(TJAP1):c.184C>T (p.Arg62Cys)
NM_001350562.2(TJAP1):c.323C>T (p.Thr108Ile)
NM_001350562.2(TJAP1):c.347T>G (p.Leu116Arg) rs2482497987
NM_001350562.2(TJAP1):c.404T>C (p.Met135Thr)
NM_001350562.2(TJAP1):c.424T>G (p.Trp142Gly)
NM_001350562.2(TJAP1):c.455T>C (p.Leu152Pro) rs2482587040
NM_001350562.2(TJAP1):c.475A>G (p.Asn159Asp) rs144142565
NM_001350562.2(TJAP1):c.601A>G (p.Met201Val)
NM_001350562.2(TJAP1):c.673G>C (p.Ala225Pro) rs201454123
NM_001350562.2(TJAP1):c.764C>A (p.Pro255His)
NM_001350562.2(TJAP1):c.770C>G (p.Ala257Gly)
NM_001350562.2(TJAP1):c.788A>T (p.His263Leu) rs757304470
NM_001350562.2(TJAP1):c.818A>T (p.Asp273Val) rs775214291
NM_001350562.2(TJAP1):c.890C>A (p.Ala297Asp)
NM_001350562.2(TJAP1):c.944C>A (p.Pro315His)
NM_001350562.2(TJAP1):c.956C>T (p.Pro319Leu)
NM_001350562.2(TJAP1):c.986G>A (p.Arg329His)

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