ClinVar Miner

List of variants in gene SH3TC2 reported as uncertain significance for Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild

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Total variants: 3
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HGVS dbSNP
NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) rs147633804

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