ClinVar Miner

List of variants in gene MFN2 reported as pathogenic for Hereditary motor and sensory neuropathy with optic atrophy

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) rs119103264

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