ClinVar Miner

List of variants in gene TP53 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.215= (p.Pro72=) rs1042522 0.37346
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000546.6(TP53):c.188C>G (p.Ala63Gly) rs372201428 0.00003
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00003
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.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000546.6(TP53):c.993+309C>T rs758194998 0.00001
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.672+2T>A rs1555525703
NM_000546.6(TP53):c.718_741del (p.Ser240_Asn247del) rs397516437
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.758C>A (p.Thr253Asn) rs1555525465
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) rs397516438
NM_000546.6(TP53):c.85AAC[1] (p.Asn30del) rs587782270
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) rs764735889

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