ClinVar Miner

List of variants in gene AR reported as pathogenic for prostate cancer

Included ClinVar conditions (36):

Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Familial prostate cancer
Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Malignant tumor of prostate
Endometrial carcinoma; Macrocephaly-autism syndrome; Familial meningioma; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Thyroid cancer, nonmedullary, 2; VACTERL with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Familial prostate cancer; Ovarian cancer
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate
Familial cancer of breast; Blepharocheilodontic syndrome 1; Hereditary diffuse gastric adenocarcinoma; Malignant tumor of prostate
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Malignant tumor of prostate
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Glioma susceptibility 3; Familial prostate cancer
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Tracheoesophageal fistula
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Malignant tumor of prostate
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
Familial cancer of breast; Lung carcinoma; Malignant tumor of prostate; Carcinoma of colon
Familial cancer of breast; Malignant tumor of prostate; Colorectal cancer
Familial prostate cancer
Li-Fraumeni syndrome 2; Bone osteosarcoma; Familial prostate cancer
Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden syndrome 1
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; Glioma susceptibility 2; Cowden syndrome 1
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1
Malignant tumor of prostate
Malignant tumor of prostate; Metastatic Prostate Small Cell Carcinoma
Malignant tumor of prostate; Prostate neoplasm
Prostate adenocarcinoma
Prostate cancer, hereditary, 1
Prostate cancer, hereditary, 12
Prostate cancer, hereditary, 13
Prostate cancer, hereditary, 2
Prostate cancer, hereditary, 2, susceptibility to
Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17
Prostate cancer, hereditary, 9
Prostate cancer/brain cancer susceptibility
Prostate neoplasm

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)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000044.6(AR):c.2180G>T (p.Arg727Leu)	rs137852593	0.00141
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)	rs137852591	0.00137
NM_000044.6(AR):c.1792A>G (p.Ser598Gly)	rs142280455	0.00038
NM_000044.6(AR):c.1644G>T (p.Leu548Phe)	rs139524801	0.00018
NM_000044.6(AR):c.1301C>T (p.Ser434Phe)	rs748457992	0.00011
NM_000044.6(AR):c.1195T>C (p.Trp399Arg)	rs774645775	0.00010
NM_000044.6(AR):c.1063G>C (p.Glu355Gln)	rs367604031	0.00004
NM_000044.6(AR):c.1208C>T (p.Ala403Val)	rs772490323	0.00003
NM_000044.6(AR):c.1651G>C (p.Asp551His)	rs777461721	0.00002
NM_000044.6(AR):c.1175C>G (p.Pro392Arg)	rs773996740	0.00001
NM_000044.6(AR):c.2184C>G (p.Asn728Lys)	rs768869912	0.00001
NM_000044.6(AR):c.2191G>A (p.Val731Met)	rs137852571	0.00001
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)	rs752055010
NM_000044.6(AR):c.2599G>A (p.Val867Met)	rs137852564

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