ClinVar Miner

List of variants in gene combination TP53, WRAP53 reported as likely benign for Li-Fraumeni syndrome

Included ClinVar conditions (12):

Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma
Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Colorectal cancer; Bone marrow failure syndrome 5
Familial cancer of breast; Li-Fraumeni syndrome 2
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate; Colorectal cancer
Familial cancer of breast; Li-Fraumeni syndrome 2; Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome 2
Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
Li-fraumeni-like syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=)	rs2287498	0.13667
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser)	rs17880282	0.02475
NM_018081.2(WRAP53):c.-206G>A	rs17551150	0.00197
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg)	rs34067256	0.00138

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