ClinVar Miner

List of variants in gene MFN2 reported as likely pathogenic for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_014874.4(MFN2):c.821G>A (p.Arg274Gln) rs768407445 0.00003
NM_014874.4(MFN2):c.334G>A (p.Val112Met) rs757937208 0.00002
NM_014874.4(MFN2):c.809T>C (p.Met270Thr) rs771996573 0.00002
NM_014874.4(MFN2):c.1145C>T (p.Ala382Val) rs201165591 0.00001
NM_014874.4(MFN2):c.395G>A (p.Cys132Tyr) rs1569830013 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NC_000001.10:g.(?_12052592)_(12052767_?)dup
NC_000001.10:g.(?_12052592)_(12057498_?)dup
NC_000001.10:g.(?_12052602)_(12057488_?)dup
NC_000001.10:g.(?_12057334)_(12059172_?)del
NC_000001.10:g.(?_12058807)_(12059172_?)dup
NM_014874.4(MFN2):c.1067C>G (p.Thr356Ser)
NM_014874.4(MFN2):c.1070A>C (p.Lys357Thr) rs2100841033
NM_014874.4(MFN2):c.1083C>G (p.His361Gln) rs1639197832
NM_014874.4(MFN2):c.1084A>C (p.Thr362Pro) rs879254176
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro) rs1553144066
NM_014874.4(MFN2):c.1160+1G>A rs1553144086
NM_014874.4(MFN2):c.1287+1G>C rs1639299226
NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.4(MFN2):c.145T>G (p.Tyr49Asp) rs2100802936
NM_014874.4(MFN2):c.1496-2A>G
NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp) rs772701127
NM_014874.4(MFN2):c.1895G>A (p.Arg632Gln)
NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_014874.4(MFN2):c.2120G>C (p.Arg707Pro) rs375937289
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223
NM_014874.4(MFN2):c.2170C>G (p.Leu724Val)
NM_014874.4(MFN2):c.2212G>A (p.Ala738Thr) rs1553146551
NM_014874.4(MFN2):c.2220G>T (p.Trp740Cys) rs1060501925
NM_014874.4(MFN2):c.2231A>G (p.Glu744Gly) rs1131691782
NM_014874.4(MFN2):c.2232G>C (p.Glu744Asp) rs756693072
NM_014874.4(MFN2):c.262A>C (p.Ile88Leu) rs1569816194
NM_014874.4(MFN2):c.264C>G (p.Ile88Met) rs1553141680
NM_014874.4(MFN2):c.281G>T (p.Arg94Leu)
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.4(MFN2):c.317G>A (p.Ser106Asn)
NM_014874.4(MFN2):c.379G>C (p.Gly127Arg)
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.4(MFN2):c.395G>T (p.Cys132Phe)
NM_014874.4(MFN2):c.401T>A (p.Leu134Gln) rs2100822581
NM_014874.4(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.4(MFN2):c.449G>T (p.Gly150Val) rs1060501918
NM_014874.4(MFN2):c.479T>G (p.Val160Gly) rs879253861
NM_014874.4(MFN2):c.494A>C (p.His165Pro) rs863224970
NM_014874.4(MFN2):c.495T>A (p.His165Gln) rs1569834720
NM_014874.4(MFN2):c.495T>G (p.His165Gln) rs1569834720
NM_014874.4(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.4(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) rs1569842296
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn) rs1557524703
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.4(MFN2):c.656A>G (p.Asp219Gly) rs1569842483
NM_014874.4(MFN2):c.658G>A (p.Ala220Thr) rs1639045345
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu) rs1639045962
NM_014874.4(MFN2):c.669T>A (p.Phe223Leu) rs1440006845
NM_014874.4(MFN2):c.688G>A (p.Glu230Lys) rs2100831900
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys) rs1569842714
NM_014874.4(MFN2):c.692C>T (p.Ser231Phe) rs1569842714
NM_014874.4(MFN2):c.694A>C (p.Thr232Pro) rs1553143165
NM_014874.4(MFN2):c.695C>A (p.Thr232Asn) rs1569842764
NM_014874.4(MFN2):c.695C>G (p.Thr232Ser) rs1569842764
NM_014874.4(MFN2):c.700A>G (p.Met234Val) rs2100831955
NM_014874.4(MFN2):c.700A>T (p.Met234Leu)
NM_014874.4(MFN2):c.701T>A (p.Met234Lys) rs1639047697
NM_014874.4(MFN2):c.702G>A (p.Met234Ile)
NM_014874.4(MFN2):c.708+1G>A rs1639048523
NM_014874.4(MFN2):c.708+5CTC[2] rs863224842
NM_014874.4(MFN2):c.711A>C (p.Glu237Asp)
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.720C>A (p.Phe240Leu) rs864622480
NM_014874.4(MFN2):c.724C>T (p.His242Tyr)
NM_014874.4(MFN2):c.731T>G (p.Val244Gly) rs1060501921
NM_014874.4(MFN2):c.742C>G (p.Leu248Val) rs1569843694
NM_014874.4(MFN2):c.746C>G (p.Ser249Cys) rs794729198
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.4(MFN2):c.752C>G (p.Pro251Arg) rs1557525153
NM_014874.4(MFN2):c.775C>A (p.Arg259Ser)
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro) rs28940294
NM_014874.4(MFN2):c.880C>T (p.Arg294Ter) rs866604005
NM_014874.4(MFN2):c.919A>G (p.Lys307Glu) rs1639171700
NM_014874.4(MFN2):c.970+1G>T rs1553143890

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