ClinVar Miner

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

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
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.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.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.672+2T>G rs1555525703
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
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.919+1G>A rs1131691039
NM_000546.6(TP53):c.993+1G>A rs11575997

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