ClinVar Miner

List of variants studied for blepharocheilodontic syndrome by Department of Prosthodontics, Peking University School and Hospital of Stomatology

Included ClinVar conditions (5):

Blepharocheilodontic syndrome 1
Blepharocheilodontic syndrome 2
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; Blepharocheilodontic syndrome 1; Hereditary diffuse gastric adenocarcinoma; Malignant tumor of prostate

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn)	rs1960893142

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