ClinVar Miner

List of variants studied for hereditary diffuse gastric adenocarcinoma by Pathway Genomics

Included ClinVar conditions (8):

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
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
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Total variants: 8

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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.1774G>A (p.Ala592Thr)	rs35187787	0.00311
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)	rs587780784	0.00001
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)	rs587783050
NM_004360.5(CDH1):c.1454T>G (p.Ile485Ser)	rs587783049
NM_004360.5(CDH1):c.187C>T (p.Arg63Ter)	rs587783047
NM_004360.5(CDH1):c.2398del (p.Arg800fs)	rs587783048
NM_004360.5(CDH1):c.470T>C (p.Val157Ala)	rs587783046

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