ClinVar Miner

List of variants reported as uncertain significance for Congenital contractural arachnodactyly by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)	rs752201545	0.00003
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)	rs760483684	0.00002

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