ClinVar Miner

List of variants reported as pathogenic for Hereditary motor and sensory neuropathy with optic atrophy by OMIM

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Total variants: 5
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HGVS dbSNP
NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.3(MFN2):c.827A>G (p.Gln276Arg) rs119103264

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