ClinVar Miner

List of variants in gene LOC126862483, TP53, WRAP53 studied 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
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000546.6(TP53):c.-94C>T	rs886053515	0.00001
NM_000546.5(TP53):c.-202_-29+?del
NM_000546.5(TP53):c.-202_-29+?dup174
NM_000546.6(TP53):c.-102C>G	rs886053516
NM_000546.6(TP53):c.-123C>T	rs2074027750
NM_000546.6(TP53):c.-29+1G>A	rs2151082372
NM_000546.6(TP53):c.-29+1G>C	rs2151082372
NM_000546.6(TP53):c.-29+1G>T
NM_000546.6(TP53):c.-73C>A	rs886053514

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