ClinVar Miner

List of variants in gene CDKN2A reported as uncertain significance for not provided

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Gene type:
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Total variants: 167
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HGVS dbSNP gnomAD frequency
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_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val) rs373291490 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.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_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_058195.4(CDKN2A):c.152G>C (p.Arg51Thr) rs1014358179 0.00003
NM_058195.4(CDKN2A):c.56G>T (p.Arg19Leu) rs748616717 0.00003
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_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.97G>A (p.Glu33Lys) rs1287464120 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.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.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.258C>T (p.Ala86=) rs1001405220 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.315C>A (p.Asp105Glu) rs763269347 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.360G>T (p.Glu120Asp) rs757308315 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.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.443C>T (p.Ala148Val) rs876659307 0.00001
NM_000077.5(CDKN2A):c.81G>T (p.Glu27Asp) rs1060504184 0.00001
NM_058195.4(CDKN2A):c.-25G>T rs1064795989 0.00001
NM_058195.4(CDKN2A):c.-39G>A rs1064793537 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.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.70G>A (p.Val24Met) rs1406669428 0.00001
NM_058195.4(CDKN2A):c.79A>C (p.Ile27Leu) rs1057517575 0.00001
NM_000077.4:c.155G>A
NM_000077.4:c.35G>A
NM_000077.5(CDKN2A):c.101C>T (p.Ala34Val) rs1554656344
NM_000077.5(CDKN2A):c.104G>A (p.Gly35Glu) rs746834149
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.148C>A (p.Gln50Lys) rs864622636
NM_000077.5(CDKN2A):c.149A>T (p.Gln50Leu) rs587778189
NM_000077.5(CDKN2A):c.150+187A>T
NM_000077.5(CDKN2A):c.150+196G>A rs2131109431
NM_000077.5(CDKN2A):c.150+76del rs386833399
NM_000077.5(CDKN2A):c.150G>C (p.Gln50His) rs1057519882
NM_000077.5(CDKN2A):c.151-7C>T rs1482685317
NM_000077.5(CDKN2A):c.156G>A (p.Met52Ile) rs1377159790
NM_000077.5(CDKN2A):c.160A>T (p.Met54Leu) rs201314211
NM_000077.5(CDKN2A):c.168C>A (p.Ser56Arg) rs771138120
NM_000077.5(CDKN2A):c.168C>T (p.Ser56=) 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.172C>G (p.Arg58Gly) rs121913387
NM_000077.5(CDKN2A):c.176T>C (p.Val59Ala) rs104894099
NM_000077.5(CDKN2A):c.186G>A (p.Leu62=) rs730881678
NM_000077.5(CDKN2A):c.194T>C (p.Leu65Pro) rs1587332314
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.203C>G (p.Ala68Gly) rs1060501260
NM_000077.5(CDKN2A):c.208C>T (p.Pro70Ser) rs1819718265
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.22A>C (p.Ser8Arg) rs1554656665
NM_000077.5(CDKN2A):c.239G>C (p.Arg80Pro)
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.253G>T (p.Ala85Ser) rs878853646
NM_000077.5(CDKN2A):c.256G>T (p.Ala86Ser)
NM_000077.5(CDKN2A):c.262G>C (p.Glu88Gln) rs121913384
NM_000077.5(CDKN2A):c.265G>A (p.Gly89Ser) rs137854597
NM_000077.5(CDKN2A):c.26T>A (p.Met9Lys) rs145445140
NM_000077.5(CDKN2A):c.272T>A (p.Leu91Gln) rs1563889362
NM_000077.5(CDKN2A):c.276C>A (p.Asp92Glu) rs1587331567
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.295C>G (p.Arg99Gly) rs34886500
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.302G>A (p.Gly101Glu) rs750414596
NM_000077.5(CDKN2A):c.305C>T (p.Ala102Val) rs137854598
NM_000077.5(CDKN2A):c.306G>T (p.Ala102=) rs1064794863
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.321C>T (p.Arg107=)
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.339G>A (p.Leu113=) rs575031539
NM_000077.5(CDKN2A):c.361C>G (p.Leu121Val) rs142371511
NM_000077.5(CDKN2A):c.370C>G (p.Arg124Gly) rs34170727
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.5(CDKN2A):c.38C>T (p.Ala13Val) rs745612549
NM_000077.5(CDKN2A):c.395_396del (p.Ala132fs)
NM_000077.5(CDKN2A):c.407dup (p.Thr137fs) rs749588877
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>A (p.Arg144His) 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.455C>T (p.Ser152Leu) rs868443488
NM_000077.5(CDKN2A):c.457+3G>A rs1206827598
NM_000077.5(CDKN2A):c.458-9_458-8delinsT rs1554653291
NM_000077.5(CDKN2A):c.45G>T (p.Trp15Cys) rs138677674
NM_000077.5(CDKN2A):c.466G>A (p.Asp156Asn) rs755445934
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.61G>A (p.Ala21Thr) rs1064793082
NM_000077.5(CDKN2A):c.64C>T (p.Arg22Trp) rs374921006
NM_000077.5(CDKN2A):c.71G>A (p.Arg24Gln) rs104894097
NM_000077.5(CDKN2A):c.80A>C (p.Glu27Ala) rs1554656403
NM_000077.5(CDKN2A):c.81G>A (p.Glu27=) rs1060504184
NM_000077.5(CDKN2A):c.82G>A (p.Val28Met) rs876658895
NM_000077.5(CDKN2A):c.83T>G (p.Val28Gly) rs775176191
NM_000077.5(CDKN2A):c.89C>T (p.Ala30Val) rs879254078
NM_058195.4(CDKN2A):c.-6G>T
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.146T>C (p.Leu49Pro)
NM_058195.4(CDKN2A):c.149T>G (p.Leu50Arg) rs1554659181
NM_058195.4(CDKN2A):c.163C>G (p.Leu55Val) rs1820527497
NM_058195.4(CDKN2A):c.170A>G (p.Gln57Arg) rs774711850
NM_058195.4(CDKN2A):c.173A>G (p.Gln58Arg)
NM_058195.4(CDKN2A):c.184A>G (p.Arg62Gly) rs386833400
NM_058195.4(CDKN2A):c.190C>A (p.Pro64Thr)
NM_058195.4(CDKN2A):c.191C>G (p.Pro64Arg) rs1348413029
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.28C>G (p.Arg10Gly) rs1554659242
NM_058195.4(CDKN2A):c.29G>A (p.Arg10Gln) rs2131148973
NM_058195.4(CDKN2A):c.50C>T (p.Pro17Leu) rs1820534329
NM_058195.4(CDKN2A):c.56G>A (p.Arg19Gln) rs748616717
NM_058195.4(CDKN2A):c.81C>T (p.Ile27=) rs1413839473

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