ClinVar Miner

List of variants in gene SH3TC2 reported as likely pathogenic for Charcot-Marie-Tooth disease, type 4C

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Total variants: 5
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HGVS dbSNP
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.3(SH3TC2):c.2431C>T
NM_024577.3(SH3TC2):c.2640del (p.Asn881fs) rs1561764569
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462

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