ClinVar Miner

List of variants in gene MFN2 studied for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_001127660.1(MFN2):c.*1797_*1799GTT[1] rs140537612
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.-249T>A rs2180182
NM_014874.3(MFN2):c.-287C>T rs2180181
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874

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