ClinVar Miner

List of variants studied for Congenital contractural arachnodactyly by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.3019T>A (p.Trp1007Arg)
NM_001999.4(FBN2):c.3190G>A (p.Val1064Ile)
NM_001999.4(FBN2):c.41T>G (p.Leu14Arg)

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