ClinVar Miner

List of variants in gene TP53 studied for vascular neoplasm

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
NM_000546.6(TP53):c.214C>G (p.Pro72Ala) rs587782769 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000546.6(TP53):c.-12C>T rs375229869 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.784G>A (p.Gly262Ser) rs200579969 0.00002
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.1001G>A (p.Gly334Glu) rs1286563734 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.1048C>G (p.Leu350Val) rs768046010 0.00001
NM_000546.6(TP53):c.346T>G (p.Ser116Ala) rs989692988 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.38C>T (p.Pro13Leu) rs878854070 0.00001
NM_000546.6(TP53):c.393C>A (p.Asn131Lys) rs769270327 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.399G>A (p.Met133Ile) rs1064795139 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) rs587782596 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.560-1G>A rs1202793339 0.00001
NM_000546.6(TP53):c.587G>A (p.Arg196Gln) rs483352697 0.00001
NM_000546.6(TP53):c.604C>T (p.Arg202Cys) rs587780072 0.00001
NM_000546.6(TP53):c.649G>A (p.Val217Met) rs35163653 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) rs587780075 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.848G>A (p.Arg283His) rs371409680 0.00001
NM_000546.6(TP53):c.1003C>T (p.Arg335Cys) rs375444154
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1054G>A (p.Asp352Asn)
NM_000546.6(TP53):c.1064C>T (p.Ala355Val) rs1555524382
NM_000546.6(TP53):c.1080G>T (p.Gly360=) rs2150994011
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg) rs1555524361
NM_000546.6(TP53):c.1087_1088inv (p.Arg363Leu)
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.1104C>G (p.His368Gln) rs1289241865
NM_000546.6(TP53):c.110C>T (p.Ser37Phe) rs1567557177
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser) rs587781858
NM_000546.6(TP53):c.1133C>A (p.Ser378Tyr)
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr) rs2072835191
NM_000546.6(TP53):c.1171G>A (p.Asp391Asn)
NM_000546.6(TP53):c.11C>G (p.Pro4Arg) rs878854064
NM_000546.6(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.6(TP53):c.183T>A (p.Asp61Glu) rs1597374797
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
NM_000546.6(TP53):c.251C>T (p.Ala84Val)
NM_000546.6(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_000546.6(TP53):c.272G>A (p.Trp91Ter) rs2073465664
NM_000546.6(TP53):c.298del (p.Gln100fs) rs1567556006
NM_000546.6(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.6(TP53):c.322G>A (p.Gly108Ser) rs587782461
NM_000546.6(TP53):c.322G>C (p.Gly108Arg) rs587782461
NM_000546.6(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
NM_000546.6(TP53):c.412G>A (p.Ala138Thr) rs28934875
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.440T>A (p.Val147Asp) rs1453167097
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
NM_000546.6(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.478A>G (p.Met160Val) rs377274728
NM_000546.6(TP53):c.47A>G (p.Gln16Arg) rs2073520057
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.48G>C (p.Gln16His) rs1597376489
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.532del (p.His178fs) rs786202525
NM_000546.6(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.538G>T (p.Glu180Ter) rs879253911
NM_000546.6(TP53):c.540G>T (p.Glu180Asp) rs2073362479
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.559+5G>C rs1555525956
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.6(TP53):c.575A>G (p.Gln192Arg) rs730882002
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_000546.6(TP53):c.617T>G (p.Leu206Trp)
NM_000546.6(TP53):c.627A>C (p.Arg209Ser)
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.652del (p.Val218fs)
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.661G>T (p.Glu221Ter) rs786201592
NM_000546.6(TP53):c.670G>A (p.Glu224Lys) rs1555525707
NM_000546.6(TP53):c.671A>G (p.Glu224Gly) rs1131691028
NM_000546.6(TP53):c.672+1G>A rs863224499
NM_000546.6(TP53):c.676G>A (p.Gly226Ser) rs1597365543
NM_000546.6(TP53):c.677G>C (p.Gly226Ala) rs970212462
NM_000546.6(TP53):c.686G>A (p.Cys229Tyr) rs1064793603
NM_000546.6(TP53):c.692C>G (p.Thr231Ser) rs1555525564
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.716del (p.Asn239fs) rs1060501197
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.717del (p.Asn239fs)
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.722_724del (p.Ser241del)
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
NM_000546.6(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.6(TP53):c.72dup (p.Leu25fs) rs2151047224
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
NM_000546.6(TP53):c.75-7_82delinsA
NM_000546.6(TP53):c.783-10T>G
NM_000546.6(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.800G>T (p.Arg267Leu) rs587780075
NM_000546.6(TP53):c.808T>C (p.Phe270Leu) rs1057519988
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.6(TP53):c.835G>A (p.Gly279Arg) rs1555525248
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.83A>T (p.Glu28Val) rs786202289
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) rs730882008
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000546.6(TP53):c.871A>G (p.Lys291Glu) rs1555525126
NM_000546.6(TP53):c.875A>C (p.Lys292Thr) rs121912663
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_000546.6(TP53):c.917_919+5delinsAGGA
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.926C>T (p.Pro309Leu) rs2151012345
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
NM_000546.6(TP53):c.941C>G (p.Ser314Cys) rs751440465
NM_000546.6(TP53):c.941C>T (p.Ser314Phe) rs751440465
NM_000546.6(TP53):c.950A>T (p.Gln317Leu) rs1159579789
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
NM_000546.6(TP53):c.97-11C>G rs769697802
NM_000546.6(TP53):c.974G>A (p.Gly325Glu) rs121912659
NM_000546.6(TP53):c.978A>T (p.Glu326Asp) rs1000256867
NM_000546.6(TP53):c.97_99del (p.Ser33del)
NM_000546.6(TP53):c.993+1G>T rs11575997
NM_000546.6(TP53):c.993+2T>C rs1597359053
NM_000546.6(TP53):c.993+32A>T
NM_000546.6(TP53):c.994-1G>A rs587782272

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