ClinVar Miner

List of variants in gene CDKN1B reported as pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004064.5(CDKN1B):c.128delinsCA (p.Arg43fs)
NM_004064.5(CDKN1B):c.169C>T (p.Gln57Ter)
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.201_202del (p.His67fs)
NM_004064.5(CDKN1B):c.215dup (p.Lys73fs) rs1555085549
NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)
NM_004064.5(CDKN1B):c.232del (p.Glu78fs)
NM_004064.5(CDKN1B):c.281_282insT (p.Lys96fs) rs1946493725
NM_004064.5(CDKN1B):c.285dup (p.Lys96fs) rs1555085575
NM_004064.5(CDKN1B):c.310C>T (p.Gln104Ter) rs1592281087
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.369dup (p.Asn124Ter)
NM_004064.5(CDKN1B):c.374_375del (p.Asn124_Ser125insTer) rs786201011
NM_004064.5(CDKN1B):c.388_392del (p.Leu130fs) rs2136356377
NM_004064.5(CDKN1B):c.389del (p.Leu130fs)
NM_004064.5(CDKN1B):c.410del (p.Pro137fs) rs1328655695
NM_004064.5(CDKN1B):c.421C>T (p.Gln141Ter) rs1946498768
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.511G>T (p.Glu171Ter)
NM_004064.5(CDKN1B):c.58C>T (p.Gln20Ter) rs1946487230

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