ClinVar Miner

List of variants in gene TP53 reported by Sema4, Sema4

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00027
NM_000546.6(TP53):c.173C>G (p.Pro58Arg) rs144386518 0.00027
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000546.6(TP53):c.216C>T (p.Pro72=) rs56275308 0.00022
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_000546.6(TP53):c.560-8G>C rs373797299 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_000546.6(TP53):c.648G>C (p.Val216=) rs199693249 0.00017
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000546.6(TP53):c.97-9C>T rs202217267 0.00011
NM_000546.6(TP53):c.474C>T (p.Arg158=) rs139200646 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00009
NM_000546.6(TP53):c.248C>T (p.Ala83Val) rs201717599 0.00007
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00007
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00005
NM_000546.6(TP53):c.102C>G (p.Pro34=) rs11575998 0.00004
NM_000546.6(TP53):c.255T>C (p.Pro85=) rs775515332 0.00004
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413 0.00004
NM_000546.6(TP53):c.612G>A (p.Glu204=) rs749629973 0.00004
NM_000546.6(TP53):c.787A>G (p.Asn263Asp) rs72661119 0.00004
NM_000546.6(TP53):c.998G>A (p.Arg333His) rs573154688 0.00004
NM_000546.6(TP53):c.180A>C (p.Pro60=) rs749289195 0.00003
NM_000546.6(TP53):c.246G>A (p.Pro82=) rs372397095 0.00003
NM_000546.6(TP53):c.329G>A (p.Arg110His) rs11540654 0.00003
NM_000546.6(TP53):c.459C>T (p.Pro153=) rs72661116 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000546.6(TP53):c.920-5C>T rs34361146 0.00003
NM_000546.6(TP53):c.249G>A (p.Ala83=) rs55754907 0.00002
NM_000546.6(TP53):c.464C>G (p.Thr155Ser) rs786202752 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000546.6(TP53):c.510G>A (p.Thr170=) rs757544615 0.00002
NM_000546.6(TP53):c.582T>C (p.Leu194=) rs370216745 0.00002
NM_000546.6(TP53):c.784G>A (p.Gly262Ser) rs200579969 0.00002
NM_000546.6(TP53):c.1003C>T (p.Arg335Cys) rs375444154 0.00001
NM_000546.6(TP53):c.1008G>A (p.Glu336=) rs1555524453 0.00001
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys) rs755394212 0.00001
NM_000546.6(TP53):c.222C>T (p.Ala74=) rs786201577 0.00001
NM_000546.6(TP53):c.354A>T (p.Thr118=) rs751978853 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.390C>T (p.Leu130=) rs781537596 0.00001
NM_000546.6(TP53):c.469G>A (p.Val157Ile) rs121912654 0.00001
NM_000546.6(TP53):c.566C>T (p.Ala189Val) rs121912665 0.00001
NM_000546.6(TP53):c.572C>G (p.Pro191Arg) rs587778718 0.00001
NM_000546.6(TP53):c.604C>T (p.Arg202Cys) rs587780072 0.00001
NM_000546.6(TP53):c.642T>G (p.His214Gln) rs587781386 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.783-10T>C rs377590379 0.00001
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) rs587780075 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.861G>C (p.Glu287Asp) rs748891343 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000546.6(TP53):c.891C>T (p.His297=) rs750578863 0.00001
NM_000546.6(TP53):c.920-9C>T rs1265260122 0.00001
NM_000546.6(TP53):c.943T>A (p.Ser315Thr) rs762620193 0.00001
NM_000546.6(TP53):c.949C>A (p.Gln317Lys) rs764735889 0.00001
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1079G>T (p.Gly360Val) rs35993958
NM_000546.6(TP53):c.129G>C (p.Leu43Phe) rs754332870
NM_000546.6(TP53):c.154C>T (p.Gln52Ter) rs2151042795
NM_000546.6(TP53):c.189T>C (p.Ala63=) rs2151042122
NM_000546.6(TP53):c.204G>A (p.Glu68=) rs746814615
NM_000546.6(TP53):c.215C>A (p.Pro72His) rs1042522
NM_000546.6(TP53):c.234_263del (p.Ala79_Ala88del) rs754312472
NM_000546.6(TP53):c.244C>G (p.Pro82Ala) rs1555526664
NM_000546.6(TP53):c.298C>T (p.Gln100Ter) rs1567555994
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.35C>G (p.Pro12Arg) rs1482497533
NM_000546.6(TP53):c.375+1G>C rs1567555445
NM_000546.6(TP53):c.375+4A>G rs1060501192
NM_000546.6(TP53):c.376-4A>T rs1221388024
NM_000546.6(TP53):c.415A>C (p.Lys139Gln) rs1212996409
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.6(TP53):c.641A>C (p.His214Pro) rs1057519992
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.652G>A (p.Val218Met) rs878854072
NM_000546.6(TP53):c.666G>A (p.Pro222=) rs72661118
NM_000546.6(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.6(TP53):c.672+48G>A rs17884607
NM_000546.6(TP53):c.699C>T (p.His233=) rs2151022006
NM_000546.6(TP53):c.783-4G>A rs1060504160
NM_000546.6(TP53):c.870C>T (p.Arg290=) rs1555525135
NM_000546.6(TP53):c.87C>G (p.Asn29Lys) rs1011445550
NM_000546.6(TP53):c.920-14_920-3del rs768598540
NM_000546.6(TP53):c.97-3C>T rs786203749

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