ClinVar Miner

List of variants reported as pathogenic for Li-Fraumeni syndrome by OMIM

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.6(TP53):c.358A>T (p.Lys120Ter) rs121912658
NM_000546.6(TP53):c.398T>C (p.Met133Thr) rs28934873
NM_000546.6(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.6(TP53):c.455dup (p.Pro153fs) rs730882019
NM_000546.6(TP53):c.532del (p.His178fs) rs786202525
NM_000546.6(TP53):c.628_629del (p.Asn210fs) rs587776768
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) rs121912653
NM_000546.6(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.875A>T (p.Lys292Ile) rs121912663
NM_007194.4(CHEK2):c.1425del (p.Phe475fs)
TP53, 1-BP DEL, CODON 257
TP53, 11-BP DEL/5-BP INS

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.