ClinVar Miner

List of variants reported as uncertain significance for Li-Fraumeni syndrome 1 by ClinGen TP53 Variant Curation Expert Panel, ClinGen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000546.6(TP53):c.353C>T (p.Thr118Ile) rs1064794141 0.00001
NM_000546.6(TP53):c.370T>A (p.Cys124Ser) rs730881997 0.00001
NM_000546.6(TP53):c.37C>T (p.Pro13Ser) rs1060501208 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.607G>A (p.Val203Met) rs730882003 0.00001
NM_000546.6(TP53):c.946C>A (p.Pro316Thr) rs772773208 0.00001
NM_000546.6(TP53):c.1009C>A (p.Arg337Ser) rs587782529
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys) rs730882014
NM_000546.6(TP53):c.436T>G (p.Trp146Gly) rs786203064
NM_000546.6(TP53):c.46C>A (p.Gln16Lys) rs2151047550
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp) rs2073376974
NM_000546.6(TP53):c.511G>A (p.Glu171Lys) rs587781845
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) rs730882008
NM_000546.6(TP53):c.85AAC[1] (p.Asn30del) rs587782270
NM_000546.6(TP53):c.97-3C>T rs786203749

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.