ClinVar Miner

List of variants in gene MFN2 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val) rs794727035
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268

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