List of variants in gene TP53 reported as 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: 37

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HGVS	dbSNP	gnomAD frequency
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	rs11540652	0.00002
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	rs121912664	0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=)	rs55863639	0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	rs587782705	0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His)	rs587782144	0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His)	rs28934578	0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro)	rs786201838	0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	rs121912666	0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)	rs730882005	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.824G>A (p.Cys275Tyr)	rs863224451	0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	rs28934574	0.00001
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	rs730882029
NM_000546.6(TP53):c.1028del (p.Glu343fs)	rs2150994907
NM_000546.6(TP53):c.142_152dup (p.Gln52fs)	rs2073481789
NM_000546.6(TP53):c.294_298del (p.Ser99fs)	rs2151039987
NM_000546.6(TP53):c.328del (p.Arg110fs)	rs587780066
NM_000546.6(TP53):c.343del (p.His115fs)	rs2073453049
NM_000546.6(TP53):c.493C>T (p.Gln165Ter)	rs730882001
NM_000546.6(TP53):c.52del (p.Thr18fs)	rs876658627
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	rs397516435
NM_000546.6(TP53):c.602del (p.Leu201fs)	rs2073338748
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	rs587778720
NM_000546.6(TP53):c.672+1G>A	rs863224499
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	rs121912651
NM_000546.6(TP53):c.772G>A (p.Glu258Lys)	rs121912652
NM_000546.6(TP53):c.772G>T (p.Glu258Ter)	rs121912652
NM_000546.6(TP53):c.795_796delinsCT (p.Gly266Ter)	rs1555525344
NM_000546.6(TP53):c.818G>A (p.Arg273His)	rs28934576
NM_000546.6(TP53):c.839del (p.Arg280fs)	rs1567547721
NM_000546.6(TP53):c.891dup (p.Glu298fs)	rs2151014373
NM_000546.6(TP53):c.912dup (p.Lys305Ter)	rs1567546818
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)	rs121913344
NM_000546.6(TP53):c.949C>T (p.Gln317Ter)	rs764735889
NM_000546.6(TP53):c.968_986del (p.Leu323fs)	rs1567545918
NM_000546.6(TP53):c.991C>T (p.Gln331Ter)	rs1597359130

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