ClinVar Miner

List of variants studied for Hereditary motor and sensory neuropathy

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Total variants: 16
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HGVS dbSNP
NM_001127660.1(MFN2):c.*1797_*1799GTT[1] rs140537612
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_014874.3(MFN2):c.*121A>G rs886045222
NM_014874.3(MFN2):c.*1640del rs35943162
NM_014874.3(MFN2):c.*1640dup rs35943162
NM_014874.3(MFN2):c.*1794_*1796del rs540280019
NM_014874.3(MFN2):c.*221_*222dup rs558848411
NM_014874.3(MFN2):c.*610del rs747291228
NM_014874.3(MFN2):c.*935G>T rs886045228
NM_014874.3(MFN2):c.-212T>C rs2180183
NM_014874.3(MFN2):c.-249T>A rs2180182
NM_014874.3(MFN2):c.-287C>T rs2180181
NM_014874.3(MFN2):c.-367A>G rs2236054
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075
NM_024577.3(SH3TC2):c.289G>A (p.Ala97Thr) rs562689036

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