ClinVar Miner

List of variants reported as uncertain significance for endometrial carcinoma by Neuberg Centre For Genomic Medicine, NCGM

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

Minimum submission review status:		Collection method:
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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)	rs63750836	0.00002
NM_002439.5(MSH3):c.2396T>G (p.Leu799Arg)	rs555670202	0.00001
NM_000179.3(MSH6):c.1881T>G (p.Phe627Leu)
NM_000179.3(MSH6):c.2467A>G (p.Ser823Gly)	rs267608032
NM_001040108.2(MLH3):c.132G>T (p.Arg44Ser)

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