ClinVar Miner

List of variants in gene PDGFRA studied for female reproductive organ cancer

Included ClinVar conditions (47):

Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Malignant tumor of testis; Carcinoma of colon
Acquired polycythemia vera; Endometrial serous adenocarcinoma
Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer
Cervical cancer
Endometrial cancer
Endometrial carcinoma
Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7
Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer
Endometrial carcinoma; Endometrial hyperplasia without atypia; Atypical endometrial hyperplasia
Endometrial carcinoma; Familial adenomatous polyposis 4
Endometrial carcinoma; Lynch syndrome 5
Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3
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
Endometrial carcinoma; Mismatch repair cancer syndrome 1; Lynch syndrome 5
Endometrioid adenocarcinoma
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate
Familial cancer of breast; Classic Hodgkin lymphoma; Ovarian neoplasm; Thyroid cancer, nonmedullary, 1
Familial cancer of breast; Endometrial carcinoma; Colorectal cancer
Familial cancer of breast; Fanconi anemia complementation group N; Familial ovarian cancer
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma
Familial cancer of breast; Ovarian neoplasm
Familial cancer of breast; Ovarian neoplasm; Lung cancer
Familial cancer of breast; Proteus syndrome; Ovarian neoplasm; Cowden syndrome 6; Colorectal cancer
Familial ovarian cancer
Familial ovarian carcinoma
Fanconi anemia complementation group J; Familial ovarian cancer
Fanconi anemia complementation group J; Ovarian neoplasm
Hereditary site-specific ovarian cancer syndrome
Leprosy, susceptibility to, 2; Lung carcinoma; Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm
Malignant germ cell tumor of ovary
Malignant neoplasm of body of uterus
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Carcinoma of colon; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7
Ovarian adenocarcinoma
Ovarian cancer
Ovarian cancer; Malignant tumor of breast
Ovarian carcinoma
Ovarian neoplasm
Ovarian neoplasm; Breast carcinoma
Ovarian neoplasm; Melanoma
Ovarian serous cystadenocarcinoma
Ovarian serous surface papillary adenocarcinoma
Papillary carcinoma of the corpus uteri
Uterine carcinosarcoma
Uterine corpus cancer

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala)	rs181854060	0.00012
NM_006206.6(PDGFRA):c.1202C>A (p.Ala401Asp)	rs397514549	0.00010
NM_006206.6(PDGFRA):c.2942G>A (p.Arg981His)	rs368266633	0.00010
NM_006206.6(PDGFRA):c.1319C>T (p.Thr440Met)	rs143344944	0.00009
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu)	rs754092062	0.00009
NM_006206.6(PDGFRA):c.248C>T (p.Thr83Met)	rs779332376	0.00009
NM_006206.6(PDGFRA):c.2119A>G (p.Ile707Val)	rs1318827602	0.00001
NM_006206.6(PDGFRA):c.3098A>T (p.Asp1033Val)	rs201874958	0.00001
NM_006206.6(PDGFRA):c.2315C>A (p.Ser772Tyr)	rs1577735147
NM_006206.6(PDGFRA):c.334C>T (p.Leu112Phe)	rs1722706795
NM_006206.6(PDGFRA):c.35G>C (p.Gly12Ala)	rs1440200916

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