ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2A1 by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001365951.3(KIF1B):c.2362C>G (p.Gln788Glu)	rs1651618189
NM_001365951.3(KIF1B):c.2544G>T (p.Arg848Ser)
NM_001365951.3(KIF1B):c.5260T>G (p.Tyr1754Asp)	rs1361142669

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