ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, type 4B2 by Baylor Genetics

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Total variants: 6
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NM_030962.3(SBF2):c.1894G>A (p.Ala632Thr) rs1386270581
NM_030962.3(SBF2):c.2596C>A (p.Pro866Thr)
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705
NM_030962.3(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522
NM_030962.3(SBF2):c.5365A>G (p.Ile1789Val) rs746542104
NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys)

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