ClinVar Miner

List of variants in gene CDKN2A reported as pathogenic by Invitae

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Total variants: 90
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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
NC_000009.11:g.(?_21968228)_(21971217_?)del
NC_000009.11:g.(?_21970891)_(21973573_?)del
NC_000009.11:g.(?_21970891)_(21975027_?)del
NC_000009.11:g.(?_21971106)_(21972068_?)del
NC_000009.11:g.(?_21994128)_(21994330_?)del
NC_000009.12:g.(?_21974668)_(21994341_?)del
NC_000009.12:g.(?_21994129)_(21994341_?)del
NC_000009.12:g.(?_21994140)_(21994331_?)del
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs) rs398123152
NM_000077.5(CDKN2A):c.120del (p.Pro41fs)
NM_000077.5(CDKN2A):c.126dup (p.Ser43Ter) rs2131112280
NM_000077.5(CDKN2A):c.130del (p.Tyr44fs)
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>A (p.Tyr44Ter) rs1554656253
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.142C>A (p.Pro48Thr) rs786204195
NM_000077.5(CDKN2A):c.143C>T (p.Pro48Leu)
NM_000077.5(CDKN2A):c.148C>T (p.Gln50Ter) rs864622636
NM_000077.5(CDKN2A):c.151-1G>A rs730881677
NM_000077.5(CDKN2A):c.151-1G>C rs730881677
NM_000077.5(CDKN2A):c.151-2A>G rs1554654224
NM_000077.5(CDKN2A):c.151-861_252del
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) rs104894095
NM_000077.5(CDKN2A):c.164G>A (p.Gly55Asp) rs561034503
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.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.188_257del (p.Leu63fs)
NM_000077.5(CDKN2A):c.189del (p.Leu64fs) rs1587332338
NM_000077.5(CDKN2A):c.197dup (p.His66fs) rs1563889847
NM_000077.5(CDKN2A):c.19_22dup (p.Ser8fs)
NM_000077.5(CDKN2A):c.204_205delinsTT (p.Glu69Ter) rs2131095862
NM_000077.5(CDKN2A):c.221del (p.Asp74fs) rs1563889685
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) rs730881674
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.5(CDKN2A):c.238del (p.Arg80fs) rs1563889584
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.248_272del (p.His83fs)
NM_000077.5(CDKN2A):c.259C>G (p.Arg87Gly)
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.283del (p.Val95fs) rs1554654052
NM_000077.5(CDKN2A):c.287_291del (p.Val96fs)
NM_000077.5(CDKN2A):c.28G>T (p.Glu10Ter)
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.303_304insC (p.Ala102fs)
NM_000077.5(CDKN2A):c.307_308del (p.Arg103fs) rs886041162
NM_000077.5(CDKN2A):c.30del (p.Glu10fs) rs1554656624
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000077.5(CDKN2A):c.329G>A (p.Trp110Ter) rs1057519852
NM_000077.5(CDKN2A):c.32dup (p.Ser12fs) rs1819962958
NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter) rs121913389
NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly) rs876660436
NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup) rs768966657
NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs) rs1554653956
NM_000077.5(CDKN2A):c.34del (p.Ser12fs) rs2131113797
NM_000077.5(CDKN2A):c.358G>T (p.Glu120Ter)
NM_000077.5(CDKN2A):c.358del (p.Glu120fs) rs1060501263
NM_000077.5(CDKN2A):c.359_360dup (p.Leu121fs) rs1563888944
NM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter) rs141798398
NM_000077.5(CDKN2A):c.367del (p.His123fs)
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.5(CDKN2A):c.381_391del (p.Tyr129fs)
NM_000077.5(CDKN2A):c.387C>A (p.Tyr129Ter)
NM_000077.5(CDKN2A):c.41_43delinsG (p.Asp14fs) rs1587340291
NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter) rs876658556
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.5(CDKN2A):c.45G>A (p.Trp15Ter) rs138677674
NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro) rs864622263
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.67G>C (p.Gly23Arg) rs1131691186
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
NM_000077.5(CDKN2A):c.69del (p.Arg24fs) rs1563892715
NM_000077.5(CDKN2A):c.76G>T (p.Glu26Ter) rs1317637377
NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter) rs1554656411
NM_000077.5(CDKN2A):c.95_112del (p.Leu32_Leu37del) rs1819949737
NM_058195.4(CDKN2A):c.126_127insCA (p.Val43fs) rs2131148302
NM_058195.4(CDKN2A):c.193+1G>A rs1060501262
NM_058195.4(CDKN2A):c.193+5G>A rs587782083
NM_058195.4(CDKN2A):c.58del (p.Arg19_Val20insTer) rs1563902931
NM_058195.4(CDKN2A):c.97G>T (p.Glu33Ter) rs1287464120
NM_058195.4(CDKN2A):c.97dup (p.Glu33fs) rs779306249

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