List of variants studied for Congenital contractural arachnodactyly by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys)	rs137852826
NM_001999.4(FBN2):c.3343G>C (p.Asp1115His)	rs137852827
NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe)	rs137852828
NM_001999.4(FBN2):c.3725-15A>G	rs587776519
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr)	rs137852825
NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp)	rs28931602
NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys)	rs267606802
NM_001999.4(FBN2):c.3974-26T>G	rs2126895611
NM_001999.4(FBN2):c.4346-2A>T	rs587776518

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