ClinVar Miner

List of variants in gene CDKN2A reported as pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala) rs746834149 0.00001
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) rs104894095 0.00001
NM_000077.5(CDKN2A):c.458-105A>G rs1060501266 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000077.4:c.206_229delAGCCCAACTGCGCCGACCCCGinsCAG
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.106del (p.Ala36fs) rs398123152
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs) rs398123152
NM_000077.5(CDKN2A):c.122_123delinsT (p.Pro41fs)
NM_000077.5(CDKN2A):c.131_132insAA (p.Tyr44Ter) rs730881673
NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter) rs730881673
NM_000077.5(CDKN2A):c.132C>G (p.Tyr44Ter) rs1554656253
NM_000077.5(CDKN2A):c.132del (p.Ser43_Tyr44insTer) rs1131691187
NM_000077.5(CDKN2A):c.135dup (p.Arg46fs)
NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) rs786204195
NM_000077.5(CDKN2A):c.148C>T (p.Gln50Ter) rs864622636
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.5(CDKN2A):c.151-1G>C rs730881677
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) rs104894095
NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile) rs104894109
NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter) rs121913387
NM_000077.5(CDKN2A):c.175_212del (p.Val59fs) rs876658511
NM_000077.5(CDKN2A):c.185_196delinsA (p.Leu62fs)
NM_000077.5(CDKN2A):c.188T>C (p.Leu63Pro) rs2131096164
NM_000077.5(CDKN2A):c.194T>C (p.Leu65Pro) rs1587332314
NM_000077.5(CDKN2A):c.19_22dup (p.Ser8fs)
NM_000077.5(CDKN2A):c.212del (p.Asn71fs) rs876658220
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) rs730881674
NM_000077.5(CDKN2A):c.228del (p.Thr77fs)
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs) rs730881675
NM_000077.5(CDKN2A):c.242C>G (p.Pro81Arg) rs11552823
NM_000077.5(CDKN2A):c.249C>A (p.His83Gln) rs34968276
NM_000077.5(CDKN2A):c.249C>G (p.His83Gln) rs34968276
NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro) rs878853647
NM_000077.5(CDKN2A):c.262G>T (p.Glu88Ter) rs121913384
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.5(CDKN2A):c.286del (p.Val96fs)
NM_000077.5(CDKN2A):c.299_303dup (p.Ala102fs)
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter) rs121913389
NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup) rs768966657
NM_000077.5(CDKN2A):c.339_340delinsCT (p.Pro114Ser) rs387906410
NM_000077.5(CDKN2A):c.340_343dup (p.Val115fs) rs1554653976
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000077.5(CDKN2A):c.358del (p.Glu120fs) rs1060501263
NM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter) rs141798398
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.5(CDKN2A):c.38_68del (p.Ala13fs)
NM_000077.5(CDKN2A):c.41_43delinsCCGTGGCTGGCCACGGCCAC (p.Asp14fs)
NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter) rs876658556
NM_000077.5(CDKN2A):c.44_46dup (p.Trp15_Leu16insArg) rs730881672
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.5(CDKN2A):c.45dup (p.Leu16fs) rs1131691188
NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg) rs864622263
NM_000077.5(CDKN2A):c.47_50del (p.Leu16fs) rs587782206
NM_000077.5(CDKN2A):c.47_51dup (p.Thr18fs)
NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter) rs1554656411
NM_000077.5(CDKN2A):c.95_112del (p.Leu32_Leu37del) rs1819949737
NM_000077.5(CDKN2A):c.97dup (p.Glu33fs)
NM_058195.4(CDKN2A):c.193G>C (p.Gly65Arg) rs2131147969

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