ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.783-1G>A rs1555525367 0.00001
NM_000546.6(TP53):c.277_278del (p.Leu93fs) rs1597374098
NM_000546.6(TP53):c.358A>T (p.Lys120Ter) rs121912658
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.6(TP53):c.497C>G (p.Ser166Ter) rs1555526101
NM_000546.6(TP53):c.532del (p.His178fs) rs786202525
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.920-2A>G rs397516439

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