ClinVar Miner

List of variants in gene CDKN1B reported by Sema4, Sema4

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_004064.5(CDKN1B):c.475+10C>T rs36101844 0.00096
NM_004064.5(CDKN1B):c.543C>G (p.Ala181=) rs140177202 0.00064
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr) rs142833529 0.00057
NM_004064.5(CDKN1B):c.518A>G (p.Asn173Ser) rs141509450 0.00042
NM_004064.5(CDKN1B):c.155T>G (p.Met52Arg) rs543122580 0.00037
NM_004064.5(CDKN1B):c.114C>T (p.His38=) rs141178987 0.00031
NM_004064.5(CDKN1B):c.476-5C>T rs370509436 0.00031
NM_004064.5(CDKN1B):c.476-6G>A rs376695255 0.00031
NM_004064.5(CDKN1B):c.*9-9C>G rs755164166 0.00023
NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly) rs546234840 0.00020
NM_004064.5(CDKN1B):c.373T>A (p.Ser125Thr) rs765681672 0.00017
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys) rs373917399 0.00014
NM_004064.5(CDKN1B):c.281C>T (p.Pro94Leu) rs757917082 0.00011
NM_004064.5(CDKN1B):c.125C>T (p.Thr42Ile) rs200422211 0.00009
NM_004064.5(CDKN1B):c.168C>T (p.Ser56=) rs35456792 0.00006
NM_004064.5(CDKN1B):c.216C>T (p.Gly72=) rs776643344 0.00004
NM_004064.5(CDKN1B):c.475+3A>G rs575418074 0.00003
NM_004064.5(CDKN1B):c.126C>T (p.Thr42=) rs747582957 0.00001
NM_004064.5(CDKN1B):c.365C>T (p.Pro122Leu) rs146973564 0.00001
NM_004064.5(CDKN1B):c.43C>T (p.Arg15Trp) rs2066828 0.00001
NM_004064.5(CDKN1B):c.475+5T>C rs781394293 0.00001
NM_004064.5(CDKN1B):c.-7G>A rs751341214
NM_004064.5(CDKN1B):c.102C>T (p.Gly34=) rs2136355548
NM_004064.5(CDKN1B):c.111C>G (p.Asp37Glu) rs1565419320
NM_004064.5(CDKN1B):c.222C>T (p.Tyr74=) rs1592280959
NM_004064.5(CDKN1B):c.238_240del (p.Glu80del) rs1946491901
NM_004064.5(CDKN1B):c.271C>T (p.Pro91Ser) rs769828807
NM_004064.5(CDKN1B):c.277C>T (p.Arg93Trp) rs140167393
NM_004064.5(CDKN1B):c.27G>A (p.Gly9=) rs1060503869
NM_004064.5(CDKN1B):c.283C>G (p.Pro95Ala) rs188579132
NM_004064.5(CDKN1B):c.283C>T (p.Pro95Ser) rs188579132
NM_004064.5(CDKN1B):c.326T>A (p.Val109Asp) rs2066827
NM_004064.5(CDKN1B):c.372C>T (p.Asn124=) rs760081465
NM_004064.5(CDKN1B):c.396C>T (p.Asp132=) rs1592281203
NM_004064.5(CDKN1B):c.397C>A (p.Pro133Thr) rs137985549
NM_004064.5(CDKN1B):c.449G>C (p.Gly150Ala) rs772818396
NM_004064.5(CDKN1B):c.485C>T (p.Thr162Ile) rs774965131
NM_004064.5(CDKN1B):c.51C>T (p.Asp17=) rs552533838
NM_004064.5(CDKN1B):c.577C>A (p.Leu193Ile) rs73281150
NM_004064.5(CDKN1B):c.590A>G (p.Gln197Arg) rs1946513852

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