ClinVar Miner

List of variants reported as uncertain significance for capillary malformation-arteriovenous malformation syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (6):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002890.3(RASA1):c.334G>A (p.Gly112Arg)	rs2112222851
NM_002890.3(RASA1):c.539+298G>A
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr)	rs1584653005

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