ClinVar Miner

List of variants reported as pathogenic for Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Neoplasm of ovary; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma by Fulgent Genetics, Fulgent Genetics

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	rs121913281

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