List of variants in gene TP53 reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000546.6(TP53):c.374C>T (p.Thr125Met)	rs786201057	0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg)	rs1057519991	0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)	rs587782596	0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His)	rs397514495	0.00001
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)	rs730882028
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)	rs587782529
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)	rs121912664
NM_000546.6(TP53):c.329G>T (p.Arg110Leu)	rs11540654
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)	rs587781991
NM_000546.6(TP53):c.434T>A (p.Leu145Gln)	rs587782197
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)	rs193920817
NM_000546.6(TP53):c.518T>C (p.Val173Ala)	rs1057519747
NM_000546.6(TP53):c.559+1G>T	rs1131691042
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)	rs483352697
NM_000546.6(TP53):c.613T>C (p.Tyr205His)	rs1057520008
NM_000546.6(TP53):c.641A>G (p.His214Arg)	rs1057519992
NM_000546.6(TP53):c.646G>A (p.Val216Met)	rs730882025
NM_000546.6(TP53):c.672+1G>T	rs863224499
NM_000546.6(TP53):c.673-1G>C	rs878854073
NM_000546.6(TP53):c.703A>G (p.Asn235Asp)	rs786204145
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)	rs730882026
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)	rs121912656
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	rs11540652
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)	rs28934571
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)	rs55832599
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)	rs1057519986
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)	rs1057519983
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	rs730882008

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.