ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by CMT Laboratory, Bogazici University

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_006158.5(NEFL):c.54C>A (p.Tyr18Ter) rs1431523432
NM_014874.4(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_152269.5(MTRFR):c.18_21del (p.Leu6fs) rs2138792385

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