ClinVar Miner

List of variants reported as likely benign for Hereditary motor and sensory neuropathy with optic atrophy

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.-149-15T>G rs114306601 0.02587
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_014874.4(MFN2):c.2145C>T (p.Ala715=) rs571011689 0.00003
NM_014874.4(MFN2):c.1818C>T (p.Gly606=) rs373843969 0.00002
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 0.00001
NM_014874.4(MFN2):c.2204+13C>T rs200441797 0.00001

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