ClinVar Miner

List of variants studied for CLOVES syndrome by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (3):

CLOVES syndrome
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Neoplasm of ovary; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer
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

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	rs121913281
NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu)	rs1747645807

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