List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 4

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HGVS	dbSNP
NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp)
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys)	rs80338926
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)
NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs)

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