ClinVar Miner

List of variants in gene CDKN1B reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_004064.5(CDKN1B):c.476A>G (p.Asp159Gly) rs893650334 0.00005
NM_004064.5(CDKN1B):c.104C>T (p.Pro35Leu) rs375297371 0.00004
NM_004064.5(CDKN1B):c.216C>T (p.Gly72=) rs776643344 0.00004
NM_004064.5(CDKN1B):c.280C>T (p.Pro94Ser) rs146217922 0.00003
NM_004064.5(CDKN1B):c.350C>T (p.Pro117Leu) rs779099486 0.00003
NM_004064.5(CDKN1B):c.35G>T (p.Ser12Ile) rs775772074 0.00003
NM_004064.5(CDKN1B):c.425C>T (p.Thr142Met) rs771115907 0.00003
NM_004064.5(CDKN1B):c.475+3A>G rs575418074 0.00003
NM_004064.5(CDKN1B):c.523T>A (p.Ser175Thr) rs753943702 0.00003
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu) rs777354267 0.00002
NM_004064.5(CDKN1B):c.20C>G (p.Ser7Cys) rs368157535 0.00002
NM_004064.5(CDKN1B):c.284C>G (p.Pro95Arg) rs200141048 0.00002
NM_004064.5(CDKN1B):c.349C>T (p.Pro117Ser) rs754936421 0.00002
NM_004064.5(CDKN1B):c.142C>T (p.His48Tyr) rs375515128 0.00001
NM_004064.5(CDKN1B):c.143A>G (p.His48Arg) rs1555085517 0.00001
NM_004064.5(CDKN1B):c.14G>A (p.Arg5Gln) rs1408164050 0.00001
NM_004064.5(CDKN1B):c.151G>T (p.Asp51Tyr) rs369554045 0.00001
NM_004064.5(CDKN1B):c.160G>C (p.Glu54Gln) rs1275755910 0.00001
NM_004064.5(CDKN1B):c.164C>T (p.Ala55Val) rs765171184 0.00001
NM_004064.5(CDKN1B):c.167G>C (p.Ser56Thr) rs758686055 0.00001
NM_004064.5(CDKN1B):c.181A>C (p.Asn61His) rs754531356 0.00001
NM_004064.5(CDKN1B):c.195G>T (p.Gln65His) rs747864095 0.00001
NM_004064.5(CDKN1B):c.1_15del (p.Met1_Arg5del) rs758613901 0.00001
NM_004064.5(CDKN1B):c.203A>G (p.Lys68Arg) rs971444878 0.00001
NM_004064.5(CDKN1B):c.211G>C (p.Glu71Gln) rs1337857330 0.00001
NM_004064.5(CDKN1B):c.214G>A (p.Gly72Ser) rs1231596455 0.00001
NM_004064.5(CDKN1B):c.243G>C (p.Lys81Asn) rs1158716077 0.00001
NM_004064.5(CDKN1B):c.245G>T (p.Gly82Val) rs767720666 0.00001
NM_004064.5(CDKN1B):c.252G>C (p.Leu84Phe) rs778436220 0.00001
NM_004064.5(CDKN1B):c.253C>T (p.Pro85Ser) rs752181999 0.00001
NM_004064.5(CDKN1B):c.274C>T (p.Pro92Ser) rs868695692 0.00001
NM_004064.5(CDKN1B):c.278G>A (p.Arg93Gln) rs769996423 0.00001
NM_004064.5(CDKN1B):c.304C>G (p.Pro102Ala) rs1249627522 0.00001
NM_004064.5(CDKN1B):c.332G>A (p.Gly111Glu) rs751007940 0.00001
NM_004064.5(CDKN1B):c.341C>G (p.Pro114Arg) rs755989911 0.00001
NM_004064.5(CDKN1B):c.352T>G (p.Leu118Val) rs1472386495 0.00001
NM_004064.5(CDKN1B):c.359G>A (p.Gly120Glu) rs1555085598 0.00001
NM_004064.5(CDKN1B):c.364C>T (p.Pro122Ser) rs747217677 0.00001
NM_004064.5(CDKN1B):c.386A>G (p.His129Arg) rs766996989 0.00001
NM_004064.5(CDKN1B):c.410C>T (p.Pro137Leu) rs369871673 0.00001
NM_004064.5(CDKN1B):c.43C>T (p.Arg15Trp) rs2066828 0.00001
NM_004064.5(CDKN1B):c.455G>A (p.Arg152Lys) rs878854623 0.00001
NM_004064.5(CDKN1B):c.463C>T (p.Pro155Ser) rs753502498 0.00001
NM_004064.5(CDKN1B):c.475G>A (p.Asp159Asn) rs751657844 0.00001
NM_004064.5(CDKN1B):c.479C>T (p.Ser160Phe) rs770629019 0.00001
NM_004064.5(CDKN1B):c.481T>C (p.Ser161Pro) rs1426083834 0.00001
NM_004064.5(CDKN1B):c.484A>G (p.Thr162Ala) rs769509212 0.00001
NM_004064.5(CDKN1B):c.497G>A (p.Arg166Lys) rs1060500189 0.00001
NM_004064.5(CDKN1B):c.51C>A (p.Asp17Glu) rs552533838 0.00001
NM_004064.5(CDKN1B):c.544G>A (p.Gly182Ser) rs775220239 0.00001
NM_004064.5(CDKN1B):c.586C>T (p.Arg196Cys) rs766315004 0.00001
NM_004064.5(CDKN1B):c.589C>A (p.Gln197Lys) rs375717769 0.00001
NM_004064.5(CDKN1B):c.-5G>T
NM_004064.5(CDKN1B):c.-73G>A rs1592280605
NM_004064.5(CDKN1B):c.-7G>C rs751341214
NM_004064.5(CDKN1B):c.104C>G (p.Pro35Arg)
NM_004064.5(CDKN1B):c.107T>G (p.Val36Gly)
NM_004064.5(CDKN1B):c.10G>A (p.Val4Met)
NM_004064.5(CDKN1B):c.110A>G (p.Asp37Gly)
NM_004064.5(CDKN1B):c.115G>A (p.Glu39Lys) rs1592280796
NM_004064.5(CDKN1B):c.124A>G (p.Thr42Ala) rs1592280811
NM_004064.5(CDKN1B):c.125C>G (p.Thr42Ser) rs200422211
NM_004064.5(CDKN1B):c.137A>G (p.Glu46Gly) rs1592280829
NM_004064.5(CDKN1B):c.13C>G (p.Arg5Gly) rs1349668409
NM_004064.5(CDKN1B):c.143A>C (p.His48Pro) rs1555085517
NM_004064.5(CDKN1B):c.147C>G (p.Cys49Trp) rs747742623
NM_004064.5(CDKN1B):c.149G>C (p.Arg50Thr)
NM_004064.5(CDKN1B):c.154A>G (p.Met52Val) rs760647541
NM_004064.5(CDKN1B):c.154A>T (p.Met52Leu) rs760647541
NM_004064.5(CDKN1B):c.155T>C (p.Met52Thr)
NM_004064.5(CDKN1B):c.160G>A (p.Glu54Lys) rs1275755910
NM_004064.5(CDKN1B):c.166A>T (p.Ser56Cys)
NM_004064.5(CDKN1B):c.168C>A (p.Ser56Arg) rs35456792
NM_004064.5(CDKN1B):c.168C>G (p.Ser56Arg)
NM_004064.5(CDKN1B):c.16G>A (p.Val6Met) rs2136355356
NM_004064.5(CDKN1B):c.172C>T (p.Arg58Cys) rs1349254230
NM_004064.5(CDKN1B):c.183T>G (p.Asn61Lys) rs2136355731
NM_004064.5(CDKN1B):c.186C>A (p.Phe62Leu)
NM_004064.5(CDKN1B):c.187G>A (p.Asp63Asn) rs1477607353
NM_004064.5(CDKN1B):c.187G>T (p.Asp63Tyr)
NM_004064.5(CDKN1B):c.194A>G (p.Gln65Arg) rs1592280892
NM_004064.5(CDKN1B):c.194A>T (p.Gln65Leu) rs1592280892
NM_004064.5(CDKN1B):c.199C>G (p.His67Asp) rs867208075
NM_004064.5(CDKN1B):c.202A>G (p.Lys68Glu)
NM_004064.5(CDKN1B):c.205C>T (p.Pro69Ser) rs1388968180
NM_004064.5(CDKN1B):c.206_208dup (p.Pro69_Leu70insPro)
NM_004064.5(CDKN1B):c.208C>G (p.Leu70Val)
NM_004064.5(CDKN1B):c.212A>G (p.Glu71Gly) rs770564585
NM_004064.5(CDKN1B):c.215G>A (p.Gly72Asp) rs1280938448
NM_004064.5(CDKN1B):c.223G>A (p.Glu75Lys) rs2136355827
NM_004064.5(CDKN1B):c.224A>G (p.Glu75Gly)
NM_004064.5(CDKN1B):c.224A>T (p.Glu75Val) rs1565419420
NM_004064.5(CDKN1B):c.229C>G (p.Gln77Glu) rs1946491661
NM_004064.5(CDKN1B):c.233A>C (p.Glu78Ala)
NM_004064.5(CDKN1B):c.234G>C (p.Glu78Asp) rs751794433
NM_004064.5(CDKN1B):c.239A>G (p.Glu80Gly) rs1253732337
NM_004064.5(CDKN1B):c.239A>T (p.Glu80Val)
NM_004064.5(CDKN1B):c.245G>A (p.Gly82Asp)
NM_004064.5(CDKN1B):c.249C>G (p.Ser83Arg)
NM_004064.5(CDKN1B):c.254C>T (p.Pro85Leu) rs2136355888
NM_004064.5(CDKN1B):c.258G>T (p.Glu86Asp) rs142940486
NM_004064.5(CDKN1B):c.263A>T (p.Tyr88Phe) rs1565419470
NM_004064.5(CDKN1B):c.265T>C (p.Tyr89His)
NM_004064.5(CDKN1B):c.269G>A (p.Arg90Lys)
NM_004064.5(CDKN1B):c.271C>G (p.Pro91Ala) rs769828807
NM_004064.5(CDKN1B):c.272C>G (p.Pro91Arg) rs768793049
NM_004064.5(CDKN1B):c.275C>T (p.Pro92Leu) rs1253618733
NM_004064.5(CDKN1B):c.280C>A (p.Pro94Thr)
NM_004064.5(CDKN1B):c.283C>T (p.Pro95Ser) rs188579132
NM_004064.5(CDKN1B):c.284C>A (p.Pro95His) rs200141048
NM_004064.5(CDKN1B):c.289G>T (p.Gly97Cys)
NM_004064.5(CDKN1B):c.290G>A (p.Gly97Asp)
NM_004064.5(CDKN1B):c.293C>T (p.Ala98Val)
NM_004064.5(CDKN1B):c.299A>G (p.Lys100Arg) rs774291520
NM_004064.5(CDKN1B):c.29G>A (p.Ser10Asn) rs1555085482
NM_004064.5(CDKN1B):c.2T>C (p.Met1Thr)
NM_004064.5(CDKN1B):c.305C>T (p.Pro102Leu)
NM_004064.5(CDKN1B):c.30C>G (p.Ser10Arg) rs990433180
NM_004064.5(CDKN1B):c.311A>G (p.Gln104Arg) rs1204233029
NM_004064.5(CDKN1B):c.316A>G (p.Ser106Gly)
NM_004064.5(CDKN1B):c.317G>A (p.Ser106Asn)
NM_004064.5(CDKN1B):c.317G>C (p.Ser106Thr)
NM_004064.5(CDKN1B):c.321G>T (p.Gln107His) rs370811357
NM_004064.5(CDKN1B):c.328A>G (p.Ser110Gly)
NM_004064.5(CDKN1B):c.32C>G (p.Pro11Arg)
NM_004064.5(CDKN1B):c.32C>T (p.Pro11Leu) rs748543504
NM_004064.5(CDKN1B):c.336C>A (p.Ser112Arg)
NM_004064.5(CDKN1B):c.337C>T (p.Arg113Cys) rs1946495615
NM_004064.5(CDKN1B):c.338G>T (p.Arg113Leu) rs767109665
NM_004064.5(CDKN1B):c.341C>T (p.Pro114Leu)
NM_004064.5(CDKN1B):c.344C>T (p.Ala115Val)
NM_004064.5(CDKN1B):c.34A>G (p.Ser12Gly) rs1592280717
NM_004064.5(CDKN1B):c.358G>A (p.Gly120Arg)
NM_004064.5(CDKN1B):c.359G>C (p.Gly120Ala) rs1555085598
NM_004064.5(CDKN1B):c.35G>A (p.Ser12Asn) rs775772074
NM_004064.5(CDKN1B):c.361G>A (p.Ala121Thr) rs1060500192
NM_004064.5(CDKN1B):c.364C>G (p.Pro122Ala)
NM_004064.5(CDKN1B):c.368C>A (p.Ala123Asp)
NM_004064.5(CDKN1B):c.368C>G (p.Ala123Gly)
NM_004064.5(CDKN1B):c.368C>T (p.Ala123Val) rs1427690050
NM_004064.5(CDKN1B):c.36C>A (p.Ser12Arg)
NM_004064.5(CDKN1B):c.372C>A (p.Asn124Lys) rs760081465
NM_004064.5(CDKN1B):c.379G>A (p.Asp127Asn)
NM_004064.5(CDKN1B):c.379G>T (p.Asp127Tyr)
NM_004064.5(CDKN1B):c.380A>G (p.Asp127Gly)
NM_004064.5(CDKN1B):c.381C>A (p.Asp127Glu)
NM_004064.5(CDKN1B):c.382A>C (p.Thr128Pro)
NM_004064.5(CDKN1B):c.383C>G (p.Thr128Arg) rs761235464
NM_004064.5(CDKN1B):c.385C>A (p.His129Asn)
NM_004064.5(CDKN1B):c.385C>T (p.His129Tyr) rs1946497392
NM_004064.5(CDKN1B):c.386A>T (p.His129Leu)
NM_004064.5(CDKN1B):c.38T>G (p.Leu13Arg) rs1946486449
NM_004064.5(CDKN1B):c.392T>A (p.Val131Glu)
NM_004064.5(CDKN1B):c.392T>G (p.Val131Gly)
NM_004064.5(CDKN1B):c.394G>A (p.Asp132Asn) rs760403492
NM_004064.5(CDKN1B):c.394G>C (p.Asp132His) rs760403492
NM_004064.5(CDKN1B):c.394G>T (p.Asp132Tyr) rs760403492
NM_004064.5(CDKN1B):c.395A>G (p.Asp132Gly) rs1592281202
NM_004064.5(CDKN1B):c.397C>G (p.Pro133Ala) rs137985549
NM_004064.5(CDKN1B):c.397C>T (p.Pro133Ser) rs137985549
NM_004064.5(CDKN1B):c.403A>C (p.Thr135Pro)
NM_004064.5(CDKN1B):c.406G>A (p.Asp136Asn)
NM_004064.5(CDKN1B):c.408T>G (p.Asp136Glu) rs1361482047
NM_004064.5(CDKN1B):c.409C>T (p.Pro137Ser) rs752620765
NM_004064.5(CDKN1B):c.413C>G (p.Ser138Trp)
NM_004064.5(CDKN1B):c.415G>A (p.Asp139Asn)
NM_004064.5(CDKN1B):c.416A>G (p.Asp139Gly)
NM_004064.5(CDKN1B):c.418A>C (p.Ser140Arg)
NM_004064.5(CDKN1B):c.418A>G (p.Ser140Gly)
NM_004064.5(CDKN1B):c.41A>G (p.Glu14Gly) rs1467549866
NM_004064.5(CDKN1B):c.421C>A (p.Gln141Lys) rs1946498768
NM_004064.5(CDKN1B):c.422A>G (p.Gln141Arg)
NM_004064.5(CDKN1B):c.425C>A (p.Thr142Lys) rs771115907
NM_004064.5(CDKN1B):c.425C>G (p.Thr142Arg)
NM_004064.5(CDKN1B):c.428G>A (p.Gly143Glu)
NM_004064.5(CDKN1B):c.428G>C (p.Gly143Ala) rs1413091136
NM_004064.5(CDKN1B):c.428delinsTAA (p.Gly143fs)
NM_004064.5(CDKN1B):c.433G>A (p.Ala145Thr) rs1946499246
NM_004064.5(CDKN1B):c.436dup (p.Glu146fs)
NM_004064.5(CDKN1B):c.439C>A (p.Gln147Lys)
NM_004064.5(CDKN1B):c.441A>C (p.Gln147His)
NM_004064.5(CDKN1B):c.441A>T (p.Gln147His)
NM_004064.5(CDKN1B):c.442T>C (p.Cys148Arg) rs775877516
NM_004064.5(CDKN1B):c.445G>C (p.Ala149Pro)
NM_004064.5(CDKN1B):c.445_446del (p.Ala149fs) rs1565419676
NM_004064.5(CDKN1B):c.446C>T (p.Ala149Val)
NM_004064.5(CDKN1B):c.448G>A (p.Gly150Arg) rs1592281257
NM_004064.5(CDKN1B):c.448G>C (p.Gly150Arg)
NM_004064.5(CDKN1B):c.449G>T (p.Gly150Val)
NM_004064.5(CDKN1B):c.451A>C (p.Ile151Leu)
NM_004064.5(CDKN1B):c.451A>G (p.Ile151Val)
NM_004064.5(CDKN1B):c.451dup (p.Ile151fs)
NM_004064.5(CDKN1B):c.452T>A (p.Ile151Lys) rs760454287
NM_004064.5(CDKN1B):c.454A>T (p.Arg152Trp)
NM_004064.5(CDKN1B):c.458A>C (p.Lys153Thr)
NM_004064.5(CDKN1B):c.466G>A (p.Ala156Thr) rs1946500374
NM_004064.5(CDKN1B):c.467C>A (p.Ala156Glu)
NM_004064.5(CDKN1B):c.470C>A (p.Thr157Asn)
NM_004064.5(CDKN1B):c.470C>T (p.Thr157Ile) rs1217425525
NM_004064.5(CDKN1B):c.472G>A (p.Asp158Asn) rs1592281294
NM_004064.5(CDKN1B):c.474C>A (p.Asp158Glu)
NM_004064.5(CDKN1B):c.475+5T>A
NM_004064.5(CDKN1B):c.476-5C>G rs370509436
NM_004064.5(CDKN1B):c.478T>A (p.Ser160Thr)
NM_004064.5(CDKN1B):c.485C>T (p.Thr162Ile) rs774965131
NM_004064.5(CDKN1B):c.488A>C (p.Gln163Pro)
NM_004064.5(CDKN1B):c.488A>G (p.Gln163Arg)
NM_004064.5(CDKN1B):c.491A>G (p.Asn164Ser) rs1592281716
NM_004064.5(CDKN1B):c.492C>A (p.Asn164Lys) rs762810555
NM_004064.5(CDKN1B):c.492_496del (p.Asn164fs) rs1210577994
NM_004064.5(CDKN1B):c.499G>T (p.Ala167Ser)
NM_004064.5(CDKN1B):c.503A>T (p.Asn168Ile)
NM_004064.5(CDKN1B):c.508A>G (p.Thr170Ala)
NM_004064.5(CDKN1B):c.509C>T (p.Thr170Ile) rs1592281727
NM_004064.5(CDKN1B):c.511GAA[1] (p.Glu172del) rs1592281730
NM_004064.5(CDKN1B):c.512A>G (p.Glu171Gly)
NM_004064.5(CDKN1B):c.520G>A (p.Val174Ile) rs766659283
NM_004064.5(CDKN1B):c.523T>C (p.Ser175Pro) rs753943702
NM_004064.5(CDKN1B):c.524C>T (p.Ser175Leu)
NM_004064.5(CDKN1B):c.529G>A (p.Gly177Ser) rs529949605
NM_004064.5(CDKN1B):c.533C>A (p.Ser178Tyr)
NM_004064.5(CDKN1B):c.533C>T (p.Ser178Phe) rs2136357372
NM_004064.5(CDKN1B):c.535C>T (p.Pro179Ser)
NM_004064.5(CDKN1B):c.536C>T (p.Pro179Leu) rs745415005
NM_004064.5(CDKN1B):c.53C>G (p.Ala18Gly)
NM_004064.5(CDKN1B):c.541G>A (p.Ala181Thr) rs1592281759
NM_004064.5(CDKN1B):c.542C>A (p.Ala181Asp)
NM_004064.5(CDKN1B):c.548C>T (p.Ser183Phe) rs748924503
NM_004064.5(CDKN1B):c.550G>A (p.Val184Met)
NM_004064.5(CDKN1B):c.553G>C (p.Glu185Gln) rs2136357420
NM_004064.5(CDKN1B):c.555G>C (p.Glu185Asp)
NM_004064.5(CDKN1B):c.55A>G (p.Arg19Gly) rs1555085496
NM_004064.5(CDKN1B):c.569A>G (p.Lys190Arg) rs774102258
NM_004064.5(CDKN1B):c.571C>A (p.Pro191Thr) rs1946513256
NM_004064.5(CDKN1B):c.571C>T (p.Pro191Ser)
NM_004064.5(CDKN1B):c.572C>T (p.Pro191Leu)
NM_004064.5(CDKN1B):c.573dup (p.Gly192fs) rs1946513323
NM_004064.5(CDKN1B):c.581G>A (p.Arg194Lys)
NM_004064.5(CDKN1B):c.581_590del (p.Arg194fs) rs1555085727
NM_004064.5(CDKN1B):c.582A>T (p.Arg194Ser)
NM_004064.5(CDKN1B):c.584G>T (p.Arg195Ile)
NM_004064.5(CDKN1B):c.590A>G (p.Gln197Arg) rs1946513852
NM_004064.5(CDKN1B):c.590A>T (p.Gln197Leu)
NM_004064.5(CDKN1B):c.593C>A (p.Thr198Lys)
NM_004064.5(CDKN1B):c.593C>G (p.Thr198Arg)
NM_004064.5(CDKN1B):c.593C>T (p.Thr198Met) rs1197510010
NM_004064.5(CDKN1B):c.594_595del (p.Ter199AsnextTer?)
NM_004064.5(CDKN1B):c.595_596insC (p.Ter199SerextTer?)
NM_004064.5(CDKN1B):c.5C>T (p.Ser2Leu) rs2136355327
NM_004064.5(CDKN1B):c.61G>A (p.Ala21Thr)
NM_004064.5(CDKN1B):c.62C>G (p.Ala21Gly)
NM_004064.5(CDKN1B):c.62C>T (p.Ala21Val)
NM_004064.5(CDKN1B):c.64G>C (p.Glu22Gln) rs2136355461
NM_004064.5(CDKN1B):c.70C>T (p.Pro24Ser) rs2136355480
NM_004064.5(CDKN1B):c.71C>T (p.Pro24Leu)
NM_004064.5(CDKN1B):c.77C>T (p.Pro26Leu) rs2136355491
NM_004064.5(CDKN1B):c.79T>C (p.Ser27Pro)
NM_004064.5(CDKN1B):c.7A>G (p.Asn3Asp) rs1348090532
NM_004064.5(CDKN1B):c.80C>T (p.Ser27Leu) rs1060500190
NM_004064.5(CDKN1B):c.83C>A (p.Ala28Asp)
NM_004064.5(CDKN1B):c.86G>A (p.Cys29Tyr) rs1946487948
NM_004064.5(CDKN1B):c.99C>G (p.Phe33Leu) rs201349921

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