ClinVar Miner

List of variants studied for gastric adenocarcinoma by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (9):

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
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Gastric adenocarcinoma
Hereditary diffuse gastric adenocarcinoma
Hereditary diffuse gastric adenocarcinoma; CDH1-related diffuse gastric and lobular breast cancer syndrome
Hereditary diffuse gastric adenocarcinoma; Malignant tumor of breast

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

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)	rs556110297	0.00001
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser)	rs773441320	0.00001
NM_004360.5(CDH1):c.1712-2A>G
NM_004360.5(CDH1):c.1754T>A (p.Leu585Gln)	rs1596963414
NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)
NM_004360.5(CDH1):c.923A>T (p.Asp308Val)	rs1567506664

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