ClinVar Miner

List of variants in gene TP53 reported as pathogenic by Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.148dup (p.Ile50fs) rs1567556956
NM_000546.6(TP53):c.321C>G (p.Tyr107Ter) rs770776262
NM_000546.6(TP53):c.396G>T (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.724T>C (p.Cys242Arg) rs1057519982
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) rs121912653
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344

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