ClinVar Miner

List of variants studied for Congenital contractural arachnodactyly by GenomeConnect, ClinGen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978 0.00004
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val) rs2126889179
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118

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