ClinVar Miner

List of variants reported as pathogenic for bone sarcoma by Juno Genomics, Hangzhou Juno Genomics, Inc

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; 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
Bone osteosarcoma
Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Familial prostate cancer
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
High grade surface osteosarcoma
Li-Fraumeni syndrome 2; Bone osteosarcoma; Familial prostate cancer
Malignant fibrous histiocytoma
Osteoblastic osteosarcoma

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000546.6(TP53):c.473G>A (p.Arg158His)	rs587782144	0.00001
NM_007194.4(CHEK2):c.592+3A>T	rs587782849	0.00001
NM_000321.3(RB1):c.607+1G>T	rs587776789
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)	rs200917541
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)	rs536907995

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