ClinVar Miner

List of variants reported as benign for endometrial carcinoma by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):

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; Ovarian neoplasm; Malignant tumor of prostate
Familial cancer of breast; Endometrial carcinoma; Colorectal cancer

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000179.3(MSH6):c.3438+14A>T	rs2020911	0.32279
NM_000179.3(MSH6):c.540T>C (p.Asp180=)	rs1800935	0.23857
NM_000179.3(MSH6):c.642C>T (p.Tyr214=)	rs1800937	0.07457
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)	rs33935154	0.01412
NM_004360.5(CDH1):c.-71C>G	rs34033771	0.00927
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)	rs2020912	0.00448

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