ClinVar Miner

List of variants studied for Congenital contractural arachnodactyly by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys)	rs1750918319
NM_001999.4(FBN2):c.3495C>G (p.Asn1165Lys)	rs774250442
NM_001999.4(FBN2):c.827-2A>G	rs1561461125
NM_001999.4(FBN2):c.8360C>G (p.Thr2787Ser)	rs1764978341
NM_001999.4(FBN2):c.844G>A (p.Ala282Thr)	rs772005485

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