ClinVar Miner

List of variants in gene TP53 reported as likely pathogenic for TP53-related disorder

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.140del (p.Pro47fs) rs1567557016
NM_000546.6(TP53):c.270del (p.Trp91fs)
NM_000546.6(TP53):c.330del (p.Leu111fs)
NM_000546.6(TP53):c.365_366del (p.Val122fs) rs587780067
NM_000546.6(TP53):c.376-1G>T rs868137297
NM_000546.6(TP53):c.402T>G (p.Phe134Leu) rs1555526278
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.6(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.646_663del (p.Val216_Glu221del)
NM_000546.6(TP53):c.680del (p.Ser227fs) rs1567550018
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter) rs1597365202
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.97-2A>G rs879254212
NM_000546.6(TP53):c.994-2A>G rs867389695
NM_000546.6:c.-29+4088_994-91del

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