ClinVar Miner

List of variants reported as uncertain significance for Li-Fraumeni syndrome 1 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.*1132C>T rs1044102603 0.00035
NM_000546.6(TP53):c.*760T>C rs935743951 0.00011
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys) rs17882252 0.00006
NM_000546.6(TP53):c.782+12C>T rs17881780 0.00005
NM_000546.6(TP53):c.*327C>T rs886053512 0.00002
NM_000546.6(TP53):c.-22G>A rs1348969852 0.00001
NM_000546.6(TP53):c.-94C>T rs886053515 0.00001
NM_000546.6(TP53):c.145G>A (p.Asp49Asn) rs587780728 0.00001
NM_000546.6(TP53):c.74+9A>C rs1057517593 0.00001
NM_000546.6(TP53):c.96+15T>C rs200053580 0.00001
NM_000546.6(TP53):c.*1160T>G rs886053499
NM_000546.6(TP53):c.*144G>A rs371002418
NM_000546.6(TP53):c.*168C>T rs2072818956
NM_000546.6(TP53):c.*626C>T rs886053506
NM_000546.6(TP53):c.*754C>T rs199729221
NM_000546.6(TP53):c.*761T>C rs925506797
NM_000546.6(TP53):c.*790G>A rs886053502
NM_000546.6(TP53):c.*99G>A rs886053513
NM_000546.6(TP53):c.-102C>G rs886053516
NM_000546.6(TP53):c.-123C>T rs2074027750
NM_000546.6(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_000546.6(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.993+8G>A rs1060504163

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.