ClinVar Miner

List of variants in gene TP53 reported as likely pathogenic by Mendelics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) rs1567549584
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.993+2T>G rs1597359053

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