ClinVar Miner

List of variants studied for endometrial carcinoma by OMIM

Included ClinVar conditions (13):

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
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 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)	rs28756990	0.02049
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)	rs33935154	0.01412
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)	rs121964871	0.00002
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	rs121913478
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_000314.8(PTEN):c.253+1G>A	rs587776667
NM_002439.5(MSH3):c.1148del (p.Lys383fs)	rs587776701

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