ClinVar Miner

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

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Total variants: 9
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NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.3(SH3TC2):c.2640del (p.Asn881fs) rs1561764569
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro) rs1580900970
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter) rs1580900150
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs) rs1580889913
NM_024577.4(SH3TC2):c.3511C>T rs759785462

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