ClinVar Miner

List of variants studied for Li-Fraumeni syndrome by Genetic Services Laboratory, University of Chicago

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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000546.6(TP53):c.869G>A (p.Arg290His)	rs55819519	0.00014
NM_000546.5(TP53):c.2588dup	rs1555523630
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	rs397516435
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)	rs587780073
NM_000546.6(TP53):c.741_742delinsTT (p.Arg248Trp)	rs1555525498

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