ClinVar Miner

List of variants reported as benign for bone osteosarcoma

Included ClinVar conditions (13):

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; 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
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Choroid plexus papilloma; Familial pancreatic carcinoma; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Bone osteosarcoma
Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma
CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer
Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer
Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer; Colorectal cancer
Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Prostate cancer
Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Prostate cancer; Colorectal cancer
High grade surface osteosarcoma
Osteoblastic osteosarcoma

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	rs1042522	0.62654
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)	rs1800371	0.00123

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