ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4J by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_014845.6(FIG4):c.290-2A>T rs587777715 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001

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