ClinVar Miner

List of variants in gene TP53 reported as pathogenic for bone marrow neoplasm

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.323_329dup (p.Leu111fs) rs1131691004
NM_000546.6(TP53):c.331del (p.Leu111fs) rs2151039122
NM_000546.6(TP53):c.449C>T (p.Thr150Ile) rs2151032692
NM_000546.6(TP53):c.494A>T (p.Gln165Leu)
NM_000546.6(TP53):c.513G>T (p.Glu171Asp)
NM_000546.6(TP53):c.537T>A (p.His179Gln) rs876660821
NM_000546.6(TP53):c.549A>T (p.Ser183=)
NM_000546.6(TP53):c.576del (p.Gln192fs)
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.6(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_000546.6(TP53):c.719G>A (p.Ser240Asn)
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.752T>A (p.Ile251Asn) rs730882027
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)

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