ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 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.440T>G (p.Val147Gly)
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) rs879253911
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.646G>T (p.Val216Leu) rs730882025
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.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.878_882del (p.Gly293fs)
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996

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