ClinVar Miner

List of variants in gene CDKN1B reported as pathogenic

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_004064.5(CDKN1B):c.-80C>T rs551236750 0.00021
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu) rs777354267 0.00002
NM_004064.5(CDKN1B):c.13C>T (p.Arg5Ter) rs1349668409 0.00001
NC_000012.11:g.(?_12870768)_(12871886_?)del
NC_000012.12:g.(?_12717384)_(12718946_?)del
NC_000012.12:g.(?_12717830)_(12718956_?)del
NM_004064.5(CDKN1B):c.-31AG[1] rs774454456
NM_004064.5(CDKN1B):c.102_105del (p.Pro35fs) rs1946488462
NM_004064.5(CDKN1B):c.115G>T (p.Glu39Ter)
NM_004064.5(CDKN1B):c.128delinsCA (p.Arg43fs)
NM_004064.5(CDKN1B):c.151_152del (p.Asp51fs) rs1592280833
NM_004064.5(CDKN1B):c.15_16dup (p.Val6fs) rs2136355351
NM_004064.5(CDKN1B):c.169C>T (p.Gln57Ter)
NM_004064.5(CDKN1B):c.174del (p.Lys59fs) rs2136355706
NM_004064.5(CDKN1B):c.174dup (p.Lys59fs)
NM_004064.5(CDKN1B):c.178dup (p.Trp60fs) rs1592280877
NM_004064.5(CDKN1B):c.179G>A (p.Trp60Ter)
NM_004064.5(CDKN1B):c.180G>A (p.Trp60Ter)
NM_004064.5(CDKN1B):c.185del (p.Phe62fs)
NM_004064.5(CDKN1B):c.185dup (p.Asp63fs) rs2136355734
NM_004064.5(CDKN1B):c.186del (p.Phe62fs) rs2136355743
NM_004064.5(CDKN1B):c.201_202del (p.His67fs)
NM_004064.5(CDKN1B):c.211_217del (p.Glu71fs)
NM_004064.5(CDKN1B):c.215del (p.Gly72fs) rs1555085549
NM_004064.5(CDKN1B):c.215dup (p.Lys73fs) rs1555085549
NM_004064.5(CDKN1B):c.217A>T (p.Lys73Ter) rs1592280948
NM_004064.5(CDKN1B):c.21dup (p.Asn8Ter) rs2136355372
NM_004064.5(CDKN1B):c.226_227insA (p.Trp76Ter) rs2136355842
NM_004064.5(CDKN1B):c.227G>A (p.Trp76Ter) rs121917832
NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)
NM_004064.5(CDKN1B):c.229_238dup (p.Glu80fs) rs1946491613
NM_004064.5(CDKN1B):c.232del (p.Glu78fs)
NM_004064.5(CDKN1B):c.251T>A (p.Leu84Ter) rs1592280992
NM_004064.5(CDKN1B):c.267C>G (p.Tyr89Ter) rs532903617
NM_004064.5(CDKN1B):c.267_268del (p.Tyr89_Arg90delinsTer) rs2136355920
NM_004064.5(CDKN1B):c.269dup (p.Pro91fs) rs1946492962
NM_004064.5(CDKN1B):c.275del (p.Pro92fs)
NM_004064.5(CDKN1B):c.276del (p.Arg93fs) rs2136355975
NM_004064.5(CDKN1B):c.281_282insT (p.Lys96fs) rs1946493725
NM_004064.5(CDKN1B):c.285del (p.Gly97fs)
NM_004064.5(CDKN1B):c.285dup (p.Lys96fs) rs1555085575
NM_004064.5(CDKN1B):c.295_305dup (p.Gln104fs)
NM_004064.5(CDKN1B):c.310C>T (p.Gln104Ter) rs1592281087
NM_004064.5(CDKN1B):c.312_313del (p.Ser106fs)
NM_004064.5(CDKN1B):c.319C>T (p.Gln107Ter)
NM_004064.5(CDKN1B):c.320del (p.Gln107fs) rs755301027
NM_004064.5(CDKN1B):c.326del (p.Val109fs)
NM_004064.5(CDKN1B):c.338del (p.Arg113fs)
NM_004064.5(CDKN1B):c.369dup (p.Asn124Ter)
NM_004064.5(CDKN1B):c.374_375del (p.Asn124_Ser125insTer) rs786201011
NM_004064.5(CDKN1B):c.375dup (p.Glu126Ter)
NM_004064.5(CDKN1B):c.379dup (p.Asp127fs)
NM_004064.5(CDKN1B):c.385dup (p.His129fs) rs2136356368
NM_004064.5(CDKN1B):c.388_392del (p.Leu130fs) rs2136356377
NM_004064.5(CDKN1B):c.389del (p.Leu130fs)
NM_004064.5(CDKN1B):c.396_397insTT (p.Pro133fs)
NM_004064.5(CDKN1B):c.410del (p.Pro137fs) rs1328655695
NM_004064.5(CDKN1B):c.413_414dup (p.Asp139fs)
NM_004064.5(CDKN1B):c.421C>T (p.Gln141Ter) rs1946498768
NM_004064.5(CDKN1B):c.43_44insCCTAGCCTGCAGC (p.Arg15delinsProTer)
NM_004064.5(CDKN1B):c.444C>A (p.Cys148Ter)
NM_004064.5(CDKN1B):c.448G>T (p.Gly150Ter)
NM_004064.5(CDKN1B):c.460C>T (p.Arg154Ter) rs1292160956
NM_004064.5(CDKN1B):c.487C>T (p.Gln163Ter) rs1202861028
NM_004064.5(CDKN1B):c.49_52del (p.Asp17fs) rs1060500186
NM_004064.5(CDKN1B):c.511G>T (p.Glu171Ter)
NM_004064.5(CDKN1B):c.58C>T (p.Gln20Ter) rs1946487230
NM_004064.5(CDKN1B):c.59_77dup (p.Ser27fs) rs786201007
NM_004064.5(CDKN1B):c.80_81del (p.Ser27fs) rs2136355500
NM_004064.5(CDKN1B):c.86dup (p.Cys29fs) rs2136355513
NM_004064.5(CDKN1B):c.9del (p.Asn3fs)

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