ClinVar Miner

List of variants in gene BRCA1 studied for endometrial carcinoma

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys)	rs28897673	0.00009
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	rs80356898	0.00001
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)	rs80357664
NM_007294.4(BRCA1):c.332A>C (p.Glu111Ala)	rs80357312
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	rs55770810
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	rs80357914

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