ClinVar Miner

List of variants reported as uncertain significance for Congenital contractural arachnodactyly by 3billion

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.2105T>G (p.Met702Arg)	rs2126947635
NM_001999.4(FBN2):c.3907C>A (p.Pro1303Thr)	rs2126896759
NM_001999.4(FBN2):c.4594G>T (p.Asp1532Tyr)

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