ClinVar Miner

List of variants reported as pathogenic for Capillary malformation-arteriovenous malformation 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002890.3(RASA1):c.2925+1del	rs1762098966
NM_002890.3(RASA1):c.934_938del (p.Glu312fs)	rs1758098122

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