ClinVar Miner

List of variants in gene TP53 reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_000546.6(TP53):c.782+17C>T rs17880172 0.00184
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_000546.6(TP53):c.173C>G (p.Pro58Arg) rs144386518 0.00030
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_000546.6(TP53):c.74+14T>C rs184743157 0.00018
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000546.6(TP53):c.993+13G>C rs369599972 0.00009
NM_000546.6(TP53):c.618G>A (p.Leu206=) rs142813240 0.00006
NM_000546.6(TP53):c.920-17C>A rs911934766 0.00006
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_000546.6(TP53):c.555C>T (p.Ser185=) rs367560109 0.00002
NM_000546.6(TP53):c.582T>C (p.Leu194=) rs370216745 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_000546.6(TP53):c.27C>T (p.Ser9=) rs757282628 0.00001
NM_000546.6(TP53):c.328C>T (p.Arg110Cys) rs587781371 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.672+6G>T rs766856111 0.00001
NM_000546.6(TP53):c.74+9A>C rs1057517593 0.00001
NM_000546.6(TP53):c.166G>T (p.Glu56Ter) rs2151042536
NM_000546.6(TP53):c.183T>C (p.Asp61=) rs1597374797
NM_000546.6(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.6(TP53):c.292C>T (p.Pro98Ser) rs1597374015
NM_000546.6(TP53):c.382C>A (p.Pro128Thr) rs1555526327
NM_000546.6(TP53):c.408A>T (p.Gln136His) rs758781593
NM_000546.6(TP53):c.470T>G (p.Val157Gly) rs1131691023
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.6(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.6(TP53):c.672+6_672+8delinsTTG rs2073318029
NM_000546.6(TP53):c.672+8T>G rs763373602
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.808T>C (p.Phe270Leu) rs1057519988
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.96+41_97-54del rs59758982

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.