ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease, type 4C by Baylor Genetics

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Total variants: 5
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NM_024577.3(SH3TC2):c.2128C>T (p.Gln710Ter) rs753287764
NM_024577.4(SH3TC2):c.2127G>A (p.Trp709Ter)
NM_024577.4(SH3TC2):c.2769del (p.Leu924fs)
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter)

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