ClinVar Miner

List of variants in gene APC studied for endometrial disorder

Included ClinVar conditions (18):

Atypical endometrial hyperplasia
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
Endometrial hyperplasia without atypia; Atypical endometrial hyperplasia
Endometriosis
Endometrium neoplasm
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; Endometrial carcinoma; Colorectal cancer
Premature ovarian insufficiency; Endometriosis

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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000038.6(APC):c.3342A>G (p.Arg1114=)	rs786201145
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter)	rs863225357
NM_000038.6(APC):c.6431T>C (p.Leu2144Pro)	rs786203880

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