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; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma

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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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