ClinVar Miner

List of variants in gene CDKN1B reported as likely pathogenic

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004064.5(CDKN1B):c.31C>T (p.Pro11Ser) rs779193240 0.00004
NM_004064.5(CDKN1B):c.443G>T (p.Cys148Phe) rs200476090 0.00002
NM_004064.5(CDKN1B):c.127delinsTAA (p.Arg43Ter) rs797044481
NM_004064.5(CDKN1B):c.151_152del (p.Asp51fs) rs1592280833
NM_004064.5(CDKN1B):c.18_23delinsT (p.Ser7fs)
NM_004064.5(CDKN1B):c.202A>T (p.Lys68Ter)
NM_004064.5(CDKN1B):c.215dup (p.Lys73fs) rs1555085549
NM_004064.5(CDKN1B):c.21dup (p.Asn8Ter) rs2136355372
NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)
NM_004064.5(CDKN1B):c.279_280insT (p.Pro94fs) rs797044482
NM_004064.5(CDKN1B):c.334del (p.Ser112fs) rs797044483
NM_004064.5(CDKN1B):c.476-18A>G
NM_004064.5(CDKN1B):c.476-2_491del
NM_004064.5(CDKN1B):c.476-6_482del rs2136357216

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