ClinVar Miner

List of variants in gene TP53 reported by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 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.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.1006G>T (p.Glu336Ter)
NM_000546.6(TP53):c.241dup (p.Thr81fs) rs2073470833
NM_000546.6(TP53):c.298C>T (p.Gln100Ter) rs1567555994
NM_000546.6(TP53):c.325T>A (p.Phe109Ile) rs1057523496
NM_000546.6(TP53):c.427G>T (p.Val143Leu) rs587782620
NM_000546.6(TP53):c.440T>G (p.Val147Gly)
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.528C>A (p.Cys176Ter) rs1057519980
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.6(TP53):c.560-2A>C rs1427441061
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.623A>T (p.Asp208Val) rs1464727668
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.6(TP53):c.672+2T>G rs1555525703
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.711G>C (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.761T>C (p.Ile254Thr) rs1330865474
NM_000546.6(TP53):c.770T>C (p.Leu257Pro) rs28934577
NM_000546.6(TP53):c.773A>G (p.Glu258Gly) rs1060501201
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.80del (p.Pro27fs) rs1192416464
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.878_882del (p.Gly293fs)
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.993+1G>A rs11575997
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996

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