ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 4C by Laboratory of Applied Genomics, Kongju National University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)	rs758669363	0.00002
NM_024577.4(SH3TC2):c.2599C>T (p.Gln867Ter)	rs2127397072

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