ClinVar Miner

List of variants in gene CDKN2A reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 160
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro) rs372481694 0.00009
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu) rs201314211 0.00005
NM_058195.4(CDKN2A):c.-9G>A rs775302601 0.00004
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_000077.5(CDKN2A):c.122C>A (p.Pro41Gln) rs373407950 0.00002
NM_000077.5(CDKN2A):c.151G>A (p.Val51Ile) rs762630679 0.00002
NM_000077.5(CDKN2A):c.226G>A (p.Ala76Thr) rs774633329 0.00002
NM_000077.5(CDKN2A):c.*3G>A rs950682180 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.127A>G (p.Ser43Gly) rs766854048 0.00001
NM_000077.5(CDKN2A):c.14C>A (p.Ala5Glu) rs1554656700 0.00001
NM_000077.5(CDKN2A):c.150+6T>C rs1025333664 0.00001
NM_000077.5(CDKN2A):c.155T>C (p.Met52Thr) rs752573958 0.00001
NM_000077.5(CDKN2A):c.178G>A (p.Ala60Thr) rs769382085 0.00001
NM_000077.5(CDKN2A):c.200G>A (p.Gly67Asp) rs863224605 0.00001
NM_000077.5(CDKN2A):c.224C>T (p.Pro75Leu) rs772411700 0.00001
NM_000077.5(CDKN2A):c.299C>T (p.Ala100Val) rs1344319395 0.00001
NM_000077.5(CDKN2A):c.301G>A (p.Gly101Arg) rs104894094 0.00001
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His) rs370823171 0.00001
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu) rs1374664673 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.352G>A (p.Ala118Thr) rs1554653960 0.00001
NM_000077.5(CDKN2A):c.383G>A (p.Arg128Gln) rs971657556 0.00001
NM_000077.5(CDKN2A):c.404G>A (p.Gly135Glu) rs1182554152 0.00001
NM_000077.5(CDKN2A):c.407G>A (p.Gly136Asp) rs758832729 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.421A>G (p.Asn141Asp) rs1399873046 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.437A>T (p.Asp146Val) rs1819681703 0.00001
NM_000077.5(CDKN2A):c.443C>T (p.Ala148Val) rs876659307 0.00001
NM_000077.5(CDKN2A):c.76G>C (p.Glu26Gln) rs1317637377 0.00001
NM_000077.5(CDKN2A):c.*13G>A rs374668781
NM_000077.5(CDKN2A):c.*2dup (p.Ter157=) rs1327025508
NM_000077.5(CDKN2A):c.*8A>T rs763795863
NM_000077.5(CDKN2A):c.*9G>T rs863224604
NM_000077.5(CDKN2A):c.100G>A (p.Ala34Thr) rs1554656349
NM_000077.5(CDKN2A):c.104G>A (p.Gly35Glu) rs746834149
NM_000077.5(CDKN2A):c.107C>T (p.Ala36Val) rs200382984
NM_000077.5(CDKN2A):c.110T>G (p.Leu37Arg) rs2131112527
NM_000077.5(CDKN2A):c.112C>T (p.Pro38Ser) rs1587339752
NM_000077.5(CDKN2A):c.117C>G (p.Asn39Lys) rs864622439
NM_000077.5(CDKN2A):c.118G>T (p.Ala40Ser) rs1554656295
NM_000077.5(CDKN2A):c.123G>A (p.Pro41=) rs754366579
NM_000077.5(CDKN2A):c.131A>G (p.Tyr44Cys) rs1563892532
NM_000077.5(CDKN2A):c.133G>C (p.Gly45Arg) rs1328708469
NM_000077.5(CDKN2A):c.136C>T (p.Arg46Trp) rs1563892516
NM_000077.5(CDKN2A):c.137G>A (p.Arg46Gln) rs1554656241
NM_000077.5(CDKN2A):c.149A>T (p.Gln50Leu) rs587778189
NM_000077.5(CDKN2A):c.150+10G>A rs557891718
NM_000077.5(CDKN2A):c.150+4G>A rs1563892453
NM_000077.5(CDKN2A):c.150+5G>T rs1554656188
NM_000077.5(CDKN2A):c.150+8G>A rs1419306566
NM_000077.5(CDKN2A):c.162G>A (p.Met54Ile) rs776792523
NM_000077.5(CDKN2A):c.168C>A (p.Ser56Arg) rs771138120
NM_000077.5(CDKN2A):c.168C>G (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.172C>G (p.Arg58Gly) rs121913387
NM_000077.5(CDKN2A):c.176T>A (p.Val59Glu) rs104894099
NM_000077.5(CDKN2A):c.17G>A (p.Gly6Glu) rs864622656
NM_000077.5(CDKN2A):c.17G>T (p.Gly6Val) rs864622656
NM_000077.5(CDKN2A):c.190C>G (p.Leu64Val)
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.199G>A (p.Gly67Ser) rs758389471
NM_000077.5(CDKN2A):c.19A>T (p.Ser7Cys) rs1554656670
NM_000077.5(CDKN2A):c.203C>G (p.Ala68Gly) rs1060501260
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.5(CDKN2A):c.229A>G (p.Thr77Ala) rs1563889628
NM_000077.5(CDKN2A):c.232C>T (p.Leu78Phe) rs1563889606
NM_000077.5(CDKN2A):c.235A>C (p.Thr79Pro) rs1554654113
NM_000077.5(CDKN2A):c.236C>A (p.Thr79Asn) rs1034265990
NM_000077.5(CDKN2A):c.236C>T (p.Thr79Ile) rs1034265990
NM_000077.5(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000077.5(CDKN2A):c.241C>A (p.Pro81Thr) rs1334828764
NM_000077.5(CDKN2A):c.242C>G (p.Pro81Arg) rs11552823
NM_000077.5(CDKN2A):c.244G>C (p.Val82Leu) rs1060501269
NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000077.5(CDKN2A):c.253G>A (p.Ala85Thr) rs878853646
NM_000077.5(CDKN2A):c.253G>T (p.Ala85Ser) rs878853646
NM_000077.5(CDKN2A):c.25A>G (p.Met9Val) rs748866274
NM_000077.5(CDKN2A):c.26T>A (p.Met9Lys) rs145445140
NM_000077.5(CDKN2A):c.26T>G (p.Met9Arg) rs145445140
NM_000077.5(CDKN2A):c.272T>A (p.Leu91Gln) rs1563889362
NM_000077.5(CDKN2A):c.292C>T (p.His98Tyr) rs1064793953
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly) rs34886500
NM_000077.5(CDKN2A):c.295C>T (p.Arg99Trp) rs34886500
NM_000077.5(CDKN2A):c.296G>A (p.Arg99Gln) rs754806883
NM_000077.5(CDKN2A):c.298G>A (p.Ala100Thr) rs200863613
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg) rs104894094
NM_000077.5(CDKN2A):c.313G>A (p.Asp105Asn) rs774829510
NM_000077.5(CDKN2A):c.317T>C (p.Val106Ala) rs1554654028
NM_000077.5(CDKN2A):c.319C>A (p.Arg107Ser) rs1554654024
NM_000077.5(CDKN2A):c.319C>T (p.Arg107Cys) rs1554654024
NM_000077.5(CDKN2A):c.320G>C (p.Arg107Pro) rs370823171
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000077.5(CDKN2A):c.325G>T (p.Ala109Ser) rs372481694
NM_000077.5(CDKN2A):c.32C>G (p.Pro11Arg) rs1374664673
NM_000077.5(CDKN2A):c.331G>A (p.Gly111Ser) rs778971134
NM_000077.5(CDKN2A):c.334C>T (p.Arg112Cys)
NM_000077.5(CDKN2A):c.335G>A (p.Arg112His) rs587782797
NM_000077.5(CDKN2A):c.344T>G (p.Val115Gly) rs750655995
NM_000077.5(CDKN2A):c.348C>A (p.Asp116Glu) rs995881157
NM_000077.5(CDKN2A):c.370C>A (p.Arg124Ser) rs34170727
NM_000077.5(CDKN2A):c.370C>G (p.Arg124Gly) rs34170727
NM_000077.5(CDKN2A):c.374A>G (p.Asp125Gly) rs1408195053
NM_000077.5(CDKN2A):c.376G>C (p.Val126Leu) rs1350305259
NM_000077.5(CDKN2A):c.380C>T (p.Ala127Val)
NM_000077.5(CDKN2A):c.382C>T (p.Arg128Trp) rs1563888826
NM_000077.5(CDKN2A):c.38C>A (p.Ala13Asp) rs745612549
NM_000077.5(CDKN2A):c.391C>T (p.Arg131Cys) rs755927351
NM_000077.5(CDKN2A):c.395C>T (p.Ala132Val) rs1413479756
NM_000077.5(CDKN2A):c.397G>A (p.Ala133Thr) rs1201199303
NM_000077.5(CDKN2A):c.404G>T (p.Gly135Val) rs1182554152
NM_000077.5(CDKN2A):c.407del (p.Gly136fs) rs749588877
NM_000077.5(CDKN2A):c.407dup (p.Thr137fs) rs749588877
NM_000077.5(CDKN2A):c.40G>A (p.Asp14Asn) rs1563892848
NM_000077.5(CDKN2A):c.415G>A (p.Gly139Ser) rs587781733
NM_000077.5(CDKN2A):c.418A>C (p.Ser140Arg) rs1587330504
NM_000077.5(CDKN2A):c.428C>G (p.Ala143Gly) rs767149947
NM_000077.5(CDKN2A):c.42C>A (p.Asp14Glu) rs1819961127
NM_000077.5(CDKN2A):c.430C>G (p.Arg144Gly) rs116150891
NM_000077.5(CDKN2A):c.431G>C (p.Arg144Pro) rs1060501274
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.437A>G (p.Asp146Gly)
NM_000077.5(CDKN2A):c.448G>C (p.Gly150Arg)
NM_000077.5(CDKN2A):c.455C>T (p.Ser152Leu) rs868443488
NM_000077.5(CDKN2A):c.458-104T>G
NM_000077.5(CDKN2A):c.458-4G>C rs876660514
NM_000077.5(CDKN2A):c.458-4G>T rs876660514
NM_000077.5(CDKN2A):c.45G>T (p.Trp15Cys) rs138677674
NM_000077.5(CDKN2A):c.461T>A (p.Ile154Asn) rs1554653284
NM_000077.5(CDKN2A):c.466G>A (p.Asp156Asn) rs755445934
NM_000077.5(CDKN2A):c.466G>T (p.Asp156Tyr) rs755445934
NM_000077.5(CDKN2A):c.50C>A (p.Ala17Asp) rs751809654
NM_000077.5(CDKN2A):c.53C>A (p.Thr18Lys) rs560518923
NM_000077.5(CDKN2A):c.53C>G (p.Thr18Arg) rs560518923
NM_000077.5(CDKN2A):c.53C>T (p.Thr18Met) rs560518923
NM_000077.5(CDKN2A):c.56C>A (p.Ala19Asp)
NM_000077.5(CDKN2A):c.58G>T (p.Ala20Ser) rs760065045
NM_000077.5(CDKN2A):c.59C>G (p.Ala20Gly) rs864622484
NM_000077.5(CDKN2A):c.62C>T (p.Ala21Val) rs1329324238
NM_000077.5(CDKN2A):c.64C>G (p.Arg22Gly) rs374921006
NM_000077.5(CDKN2A):c.65G>A (p.Arg22Gln) rs1554656491
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000077.5(CDKN2A):c.71G>A (p.Arg24Gln) rs104894097
NM_000077.5(CDKN2A):c.73G>T (p.Val25Leu) rs2131113089
NM_000077.5(CDKN2A):c.80A>C (p.Glu27Ala) rs1554656403
NM_000077.5(CDKN2A):c.83T>G (p.Val28Gly) rs775176191
NM_000077.5(CDKN2A):c.85C>T (p.Arg29Trp) rs1554656382
NM_000077.5(CDKN2A):c.89C>G (p.Ala30Gly)
NM_000077.5(CDKN2A):c.89C>T (p.Ala30Val) rs879254078

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.