ClinVar Miner

List of variants reported as uncertain significance for Congenital contractural arachnodactyly by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)	rs201962592	0.00021
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)	rs779202876	0.00001

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