ClinVar Miner

List of variants in gene TP53 studied for Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Familial pancreatic carcinoma; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5

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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.214C>G (p.Pro72Ala) rs587782769 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.587G>A (p.Arg196Gln) rs483352697 0.00001
NM_000546.6(TP53):c.604C>T (p.Arg202Cys) rs587780072 0.00001
NM_000546.6(TP53):c.649G>A (p.Val217Met) rs35163653 0.00001
NM_000546.6(TP53):c.1080G>T (p.Gly360=) rs2150994011
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.110C>T (p.Ser37Phe) rs1567557177
NM_000546.6(TP53):c.11C>G (p.Pro4Arg) rs878854064
NM_000546.6(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_000546.6(TP53):c.298del (p.Gln100fs) rs1567556006
NM_000546.6(TP53):c.412G>A (p.Ala138Thr) rs28934875
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.875A>C (p.Lys292Thr) rs121912663

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