ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4C by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024577.4(SH3TC2):c.385+3A>G	rs184593694	0.00024
NM_024577.4(SH3TC2):c.2402G>A (p.Cys801Tyr)	rs1269266843

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