ClinVar Miner

List of variants in gene TP53 reported as pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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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.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.566C>T (p.Ala189Val) rs121912665 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.974G>T (p.Gly325Val) rs121912659 0.00001
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.105G>T (p.Leu35Phe) rs121912661
NM_000546.6(TP53):c.1101-1G>C
NM_000546.6(TP53):c.298del (p.Gln100fs) rs1567556006
NM_000546.6(TP53):c.308dup (p.Tyr103Ter)
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.431_433del (p.Gln144del) rs2073391946
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.628_639del (p.Asn210_Arg213del) rs2073329654
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.72dup (p.Leu25fs) rs2151047224
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.913A>T (p.Lys305Ter) rs1597360340
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.6(TP53):c.96+1G>T rs1131691003

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