ClinVar Miner

List of variants in gene SBF2 reported as pathogenic for Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma

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Total variants: 2
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HGVS dbSNP
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138

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