ClinVar Miner

List of variants in gene CDKN2A reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.*29G>C rs11515 0.85710
NM_058195.4(CDKN2A):c.194-3810G>A rs3814960 0.49402
NM_000077.5(CDKN2A):c.150+459T>C rs3731239 0.25729
NM_058195.4(CDKN2A):c.193+174A>G rs2811711 0.13731
NM_000077.5(CDKN2A):c.*69C>T rs3088440 0.13094
NM_000077.5(CDKN2A):c.151-782G>C rs3731246 0.11404
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_058195.4(CDKN2A):c.194-4112A>T rs36228834 0.02003
NM_000077.5(CDKN2A):c.*373C>G rs3731255 0.01721
NM_000077.5(CDKN2A):c.150+1277G>A rs72547290 0.01241
NM_000077.5(CDKN2A):c.150+216_150+218del rs201820199 0.01056
NM_000077.5(CDKN2A):c.150+365T>G rs115521447 0.01050
NM_000077.5(CDKN2A):c.150+221_150+226del rs200504822 0.00895
NM_000077.5(CDKN2A):c.150+1306C>G rs76709929 0.00641
NM_058195.4(CDKN2A):c.194-3799G>A rs145660371 0.00600
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_000077.5(CDKN2A):c.151-1238G>A rs3731245 0.00519
NM_000077.5(CDKN2A):c.458-471G>T rs34011899 0.00517
NM_000077.5(CDKN2A):c.457+227A>G rs113886003 0.00516
NM_000077.5(CDKN2A):c.151-145T>C rs3731247 0.00475
NM_000077.5(CDKN2A):c.151-223G>A rs138233963 0.00397
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=) rs201208890 0.00273
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_000077.5(CDKN2A):c.458-491C>T rs181044510 0.00229
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000077.5(CDKN2A):c.150+1104C>A rs756102261 0.00069
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613 0.00038
NM_058195.4(CDKN2A):c.-28C>G rs149253558 0.00035
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=) rs374360796 0.00024
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000077.5(CDKN2A):c.51C>A (p.Ala17=) rs764362225 0.00019
NM_000077.5(CDKN2A):c.151-14G>A rs767030551 0.00016
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val) rs373291490 0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=) rs546300971 0.00010
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro) rs372481694 0.00009
NM_000077.5(CDKN2A):c.87G>A (p.Arg29=) rs540871544 0.00009
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_058195.4(CDKN2A):c.160C>A (p.Arg54Ser) rs896054565 0.00006
NM_058195.4(CDKN2A):c.94G>A (p.Gly32Arg) rs879254043 0.00006
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu) rs201314211 0.00005
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg) rs756750256 0.00004
NM_000077.5(CDKN2A):c.405G>A (p.Gly135=) rs751586391 0.00004
NM_058195.4(CDKN2A):c.-9G>A rs775302601 0.00004
NM_000077.5(CDKN2A):c.147C>A (p.Ile49=) rs200738474 0.00003
NM_000077.5(CDKN2A):c.151-13T>C rs757122222 0.00003
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_000077.5(CDKN2A):c.25A>T (p.Met9Leu) rs748866274 0.00003
NM_058195.4(CDKN2A):c.56G>T (p.Arg19Leu) rs748616717 0.00003
NM_000077.5(CDKN2A):c.*6C>G rs375628411 0.00002
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln) rs373407950 0.00002
NM_000077.5(CDKN2A):c.198C>T (p.His66=) rs374984975 0.00002
NM_000077.5(CDKN2A):c.342C>G (p.Pro114=) rs878853648 0.00002
NM_000077.5(CDKN2A):c.459C>T (p.Asp153=) rs778871932 0.00002
NM_058195.4(CDKN2A):c.167G>A (p.Gly56Glu) rs748327367 0.00002
NM_058195.4(CDKN2A):c.193+15C>T rs757840893 0.00002
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg) rs528789830 0.00002
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala) rs746834149 0.00001
NM_000077.5(CDKN2A):c.106G>A (p.Ala36Thr) rs777948908 0.00001
NM_000077.5(CDKN2A):c.121C>G (p.Pro41Ala) rs765321737 0.00001
NM_000077.5(CDKN2A):c.150+6T>C rs1025333664 0.00001
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_000077.5(CDKN2A):c.155T>C (p.Met52Thr) rs752573958 0.00001
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) rs104894095 0.00001
NM_000077.5(CDKN2A):c.178G>A (p.Ala60Thr) rs769382085 0.00001
NM_000077.5(CDKN2A):c.210C>T (p.Pro70=) rs864622570 0.00001
NM_000077.5(CDKN2A):c.230C>G (p.Thr77Ser) rs1350680332 0.00001
NM_000077.5(CDKN2A):c.231T>C (p.Thr77=) rs1064793313 0.00001
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198 0.00001
NM_000077.5(CDKN2A):c.300C>T (p.Ala100=) rs876660818 0.00001
NM_000077.5(CDKN2A):c.307C>T (p.Arg103Trp) rs767642535 0.00001
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His) rs370823171 0.00001
NM_000077.5(CDKN2A):c.343G>T (p.Val115Leu) rs779913365 0.00001
NM_000077.5(CDKN2A):c.344T>A (p.Val115Glu) rs750655995 0.00001
NM_000077.5(CDKN2A):c.351G>C (p.Leu117=) rs1060504182 0.00001
NM_000077.5(CDKN2A):c.396G>C (p.Ala132=) rs745702441 0.00001
NM_000077.5(CDKN2A):c.406G>A (p.Gly136Ser) rs777840257 0.00001
NM_000077.5(CDKN2A):c.412A>G (p.Arg138Gly) rs145012438 0.00001
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg) rs587781733 0.00001
NM_000077.5(CDKN2A):c.416G>A (p.Gly139Asp) rs149937815 0.00001
NM_000077.5(CDKN2A):c.425A>G (p.His142Arg) rs759922342 0.00001
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr) rs754195015 0.00001
NM_000077.5(CDKN2A):c.443C>T (p.Ala148Val) rs876659307 0.00001
NM_000077.5(CDKN2A):c.458-105A>G rs1060501266 0.00001
NM_000077.5(CDKN2A):c.458-10C>G rs748219065 0.00001
NM_000077.5(CDKN2A):c.468T>C (p.Asp156=) rs749753811 0.00001
NM_000077.5(CDKN2A):c.57C>T (p.Ala19=) rs1060504186 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000077.5(CDKN2A):c.81G>T (p.Glu27Asp) rs1060504184 0.00001
NM_058195.4(CDKN2A):c.-22C>T rs1460467871 0.00001
NM_058195.4(CDKN2A):c.-25G>T rs1064795989 0.00001
NM_058195.4(CDKN2A):c.-2A>T rs764949869 0.00001
NM_058195.4(CDKN2A):c.-39G>A rs1064793537 0.00001
NM_058195.4(CDKN2A):c.-42G>C rs755734889 0.00001
NM_058195.4(CDKN2A):c.115G>A (p.Ala39Thr) rs1064795551 0.00001
NM_058195.4(CDKN2A):c.121G>A (p.Ala41Thr) rs1064793582 0.00001
NM_058195.4(CDKN2A):c.135C>G (p.Leu45=) rs766676234 0.00001
NM_058195.4(CDKN2A):c.13T>A (p.Phe5Ile) rs776987532 0.00001
NM_058195.4(CDKN2A):c.187A>C (p.Arg63=) rs1190780216 0.00001
NM_058195.4(CDKN2A):c.194-3668C>A rs1064793081 0.00001
NM_058195.4(CDKN2A):c.36G>T (p.Arg12=) rs1305455942 0.00001
NM_058195.4(CDKN2A):c.79A>C (p.Ile27Leu) rs1057517575 0.00001
NM_000077.4:c.206_229delAGCCCAACTGCGCCGACCCCGinsCAG
NM_000077.5(CDKN2A):c.*223G>T rs181996487
NM_000077.5(CDKN2A):c.*8A>G rs763795863
NM_000077.5(CDKN2A):c.*8A>T rs763795863
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs) rs398123152
NM_000077.5(CDKN2A):c.112C>T (p.Pro38Ser) rs1587339752
NM_000077.5(CDKN2A):c.118G>T (p.Ala40Ser) rs1554656295
NM_000077.5(CDKN2A):c.131_132insAA (p.Tyr44Ter) rs730881673
NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter) rs730881673
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
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.150+1255C>A rs2811708
NM_000077.5(CDKN2A):c.150+12G>A rs1057520264
NM_000077.5(CDKN2A):c.150+18A>G rs1251604295
NM_000077.5(CDKN2A):c.150+20C>G rs550846229
NM_000077.5(CDKN2A):c.150+8G>A rs1419306566
NM_000077.5(CDKN2A):c.150G>C (p.Gln50His) rs1057519882
NM_000077.5(CDKN2A):c.151-117_151-114del rs527380593
NM_000077.5(CDKN2A):c.151-18_151-13delinsCTCTGC rs1064794613
NM_000077.5(CDKN2A):c.151-1G>C rs730881677
NM_000077.5(CDKN2A):c.151-1G>T rs730881677
NM_000077.5(CDKN2A):c.151-7C>G rs1482685317
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) rs104894095
NM_000077.5(CDKN2A):c.168C>A (p.Ser56Arg) rs771138120
NM_000077.5(CDKN2A):c.170C>A (p.Ala57Asp) rs372266620
NM_000077.5(CDKN2A):c.170C>G (p.Ala57Gly) rs372266620
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.5(CDKN2A):c.176T>C (p.Val59Ala) rs104894099
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.186G>A (p.Leu62=) rs730881678
NM_000077.5(CDKN2A):c.197A>C (p.His66Pro) rs756750256
NM_000077.5(CDKN2A):c.198C>A (p.His66Gln) rs374984975
NM_000077.5(CDKN2A):c.198C>G (p.His66Gln) rs374984975
NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002
NM_000077.5(CDKN2A):c.215G>T (p.Cys72Phe) rs2131095658
NM_000077.5(CDKN2A):c.218_220dup (p.Ala73dup) rs1554654136
NM_000077.5(CDKN2A):c.219C>G (p.Ala73=) rs730881679
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) rs730881674
NM_000077.5(CDKN2A):c.22A>C (p.Ser8Arg) rs1554656665
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.243C>G (p.Pro81=) rs1060504185
NM_000077.5(CDKN2A):c.244G>C (p.Val82Leu) rs1060501269
NM_000077.5(CDKN2A):c.246G>C (p.Val82=) rs1060504181
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.5(CDKN2A):c.253G>T (p.Ala85Ser) rs878853646
NM_000077.5(CDKN2A):c.253_254delinsTT (p.Ala85Phe) rs1064796336
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.5(CDKN2A):c.26T>A (p.Met9Lys) rs145445140
NM_000077.5(CDKN2A):c.276C>A (p.Asp92Glu) rs1587331567
NM_000077.5(CDKN2A):c.281T>C (p.Leu94Pro) rs1819703656
NM_000077.5(CDKN2A):c.282G>A (p.Leu94=) rs1064793589
NM_000077.5(CDKN2A):c.292C>T (p.His98Tyr) rs1064793953
NM_000077.5(CDKN2A):c.296G>A (p.Arg99Gln) rs754806883
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg) rs104894094
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.302G>A (p.Gly101Glu) rs750414596
NM_000077.5(CDKN2A):c.306G>T (p.Ala102=) rs1064794863
NM_000077.5(CDKN2A):c.307_308del (p.Arg103fs) rs886041162
NM_000077.5(CDKN2A):c.308G>C (p.Arg103Pro) rs143282362
NM_000077.5(CDKN2A):c.316G>C (p.Val106Leu) rs775860099
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000077.5(CDKN2A):c.326C>A (p.Ala109Asp) rs1064794838
NM_000077.5(CDKN2A):c.329G>A (p.Trp110Ter) rs1057519852
NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup) rs768966657
NM_000077.5(CDKN2A):c.339G>A (p.Leu113=) rs575031539
NM_000077.5(CDKN2A):c.339_340delinsCT (p.Pro114Ser) rs387906410
NM_000077.5(CDKN2A):c.360G>A (p.Glu120=) rs757308315
NM_000077.5(CDKN2A):c.361C>G (p.Leu121Val) rs142371511
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.5(CDKN2A):c.369T>C (p.His123=) rs6413463
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro) rs6413464
NM_000077.5(CDKN2A):c.38C>T (p.Ala13Val) rs745612549
NM_000077.5(CDKN2A):c.415G>T (p.Gly139Cys) rs587781733
NM_000077.5(CDKN2A):c.418A>C (p.Ser140Arg) rs1587330504
NM_000077.5(CDKN2A):c.426T>G (p.His142Gln) rs879254063
NM_000077.5(CDKN2A):c.431G>T (p.Arg144Leu) rs1060501274
NM_000077.5(CDKN2A):c.434T>C (p.Ile145Thr) rs730881680
NM_000077.5(CDKN2A):c.441C>A (p.Ala147=) rs1057524065
NM_000077.5(CDKN2A):c.44_46dup (p.Trp15_Leu16insArg) rs730881672
NM_000077.5(CDKN2A):c.457+11A>G rs1057521424
NM_000077.5(CDKN2A):c.457+1_457+10del rs1587330284
NM_000077.5(CDKN2A):c.458-15T>A rs772321849
NM_000077.5(CDKN2A):c.458-4G>C rs876660514
NM_000077.5(CDKN2A):c.45G>T (p.Trp15Cys) rs138677674
NM_000077.5(CDKN2A):c.462C>A (p.Ile154=) rs1554653281
NM_000077.5(CDKN2A):c.466G>A (p.Asp156Asn) rs755445934
NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg) rs864622263
NM_000077.5(CDKN2A):c.52_57dup (p.Thr18_Ala19dup) rs1563892769
NM_000077.5(CDKN2A):c.54G>T (p.Thr18=) rs765702324
NM_000077.5(CDKN2A):c.59C>G (p.Ala20Gly) rs864622484
NM_000077.5(CDKN2A):c.61G>A (p.Ala21Thr) rs1064793082
NM_000077.5(CDKN2A):c.66G>A (p.Arg22=) rs776810546
NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser) rs1131691186
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.72G>T (p.Arg24=) rs1449870708
NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter) rs1554656411
NM_000077.5(CDKN2A):c.82G>A (p.Val28Met) rs876658895
NM_000077.5(CDKN2A):c.89C>T (p.Ala30Val) rs879254078
NM_058195.4(CDKN2A):c.-46G>A rs779168896
NM_058195.4(CDKN2A):c.-6G>A rs1057521467
NM_058195.4(CDKN2A):c.127G>C (p.Val43Leu) rs1820529552
NM_058195.4(CDKN2A):c.131C>T (p.Ala44Val) rs1261184323
NM_058195.4(CDKN2A):c.140T>C (p.Leu47Pro) rs2131148222
NM_058195.4(CDKN2A):c.149T>G (p.Leu50Arg) rs1554659181
NM_058195.4(CDKN2A):c.16T>C (p.Leu6=) rs1554659245
NM_058195.4(CDKN2A):c.170A>G (p.Gln57Arg) rs774711850
NM_058195.4(CDKN2A):c.172C>T (p.Gln58Ter) rs2131148082
NM_058195.4(CDKN2A):c.173A>G (p.Gln58Arg)
NM_058195.4(CDKN2A):c.190C>A (p.Pro64Thr)
NM_058195.4(CDKN2A):c.191C>G (p.Pro64Arg) rs1348413029
NM_058195.4(CDKN2A):c.193+1G>A rs1060501262
NM_058195.4(CDKN2A):c.193+5G>A rs587782083
NM_058195.4(CDKN2A):c.194-3659C>A rs777276974
NM_058195.4(CDKN2A):c.194-3667G>A rs746294267
NM_058195.4(CDKN2A):c.194-3668C>G rs1064793081
NM_058195.4(CDKN2A):c.23C>A (p.Thr8Asn) rs1820536698
NM_058195.4(CDKN2A):c.29G>A (p.Arg10Gln) rs2131148973
NM_058195.4(CDKN2A):c.30G>A (p.Arg10=) rs876658436
NM_058195.4(CDKN2A):c.30G>T (p.Arg10=) rs876658436
NM_058195.4(CDKN2A):c.48C>T (p.Gly16=) rs786202556
NM_058195.4(CDKN2A):c.50C>T (p.Pro17Leu) rs1820534329
NM_058195.4(CDKN2A):c.75T>C (p.Val25=) rs1057522328
NM_058195.4(CDKN2A):c.97dup (p.Glu33fs) rs779306249

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