ClinVar Miner

List of variants reported as likely pathogenic by CMT Laboratory,Bogazici University

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Total variants: 4
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NM_006158.5(NEFL):c.54C>A (p.Tyr18Ter)
NM_014874.3(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_152269.5(MTRFR):c.18_21del (p.Leu6fs)

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