ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4B2 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.4444-1G>C
NM_030962.4(SBF2):c.5290del (p.Trp1764fs) rs2494486624
NM_030962.4(SBF2):c.659C>G (p.Thr220Arg) rs2496190461

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