ClinVar Miner

List of variants in gene TP53 reported as likely pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
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Total variants: 13
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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.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.673-39G>A
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.6(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.6(TP53):c.731del (p.Gly244fs) rs2151021047
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.97-11C>G rs769697802

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