ClinVar Miner

List of variants reported as benign for blepharocheilodontic syndrome by Fulgent Genetics, Fulgent Genetics

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

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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: 2

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HGVS	dbSNP	gnomAD frequency
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)	rs33935154	0.01412
NM_004360.5(CDH1):c.-71C>G	rs34033771	0.00927

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