ClinVar Miner

List of variants in gene MFN2 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 174
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HGVS dbSNP
NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg) rs1569829573
NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_014874.3(MFN2):c.1040A>T (p.Glu347Val) rs1569853875
NM_014874.3(MFN2):c.1048T>C (p.Ser350Pro) rs1569853900
NM_014874.3(MFN2):c.1066A>G (p.Thr356Ala) rs1569853967
NM_014874.3(MFN2):c.1078C>G (p.Gln360Glu) rs1064795818
NM_014874.3(MFN2):c.1081C>T (p.His361Tyr) rs1569854012
NM_014874.3(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.3(MFN2):c.1091G>C (p.Arg364Pro) rs879254011
NM_014874.3(MFN2):c.1118G>A (p.Arg373Gln) rs142042485
NM_014874.3(MFN2):c.1126A>C (p.Met376Leu) rs863224967
NM_014874.3(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.3(MFN2):c.1127T>G (p.Met376Arg) rs1569854342
NM_014874.3(MFN2):c.1128G>A (p.Met376Ile) rs1553144059
NM_014874.3(MFN2):c.1132T>C (p.Ser378Pro) rs1569854381
NM_014874.3(MFN2):c.1134_1142del (p.Leu379_Met381del) rs1569854405
NM_014874.3(MFN2):c.1144G>C (p.Ala382Pro) rs1553144066
NM_014874.3(MFN2):c.1150C>T (p.Arg384Trp) rs777353788
NM_014874.3(MFN2):c.1157_1158inv (p.Gln386Pro)
NM_014874.3(MFN2):c.1168T>C (p.Cys390Arg) rs1569859647
NM_014874.3(MFN2):c.1169G>T (p.Cys390Phe) rs1569859660
NM_014874.3(MFN2):c.1181G>A (p.Arg394His) rs538243357
NM_014874.3(MFN2):c.1198C>T (p.Arg400Ter) rs879253939
NM_014874.3(MFN2):c.1199G>C (p.Arg400Pro) rs138072432
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.3(MFN2):c.1271A>G (p.Glu424Gly) rs1557530247
NM_014874.3(MFN2):c.134A>G (p.Gln45Arg) rs1569802992
NM_014874.3(MFN2):c.1392+2T>C rs111723244
NM_014874.3(MFN2):c.1453G>A (p.Ala485Thr) rs1320374657
NM_014874.3(MFN2):c.1487A>G (p.Asp496Gly) rs1569862824
NM_014874.3(MFN2):c.1537A>G (p.Ile513Val) rs755657087
NM_014874.3(MFN2):c.1556G>C (p.Arg519Pro) rs373809750
NM_014874.3(MFN2):c.1574A>G (p.Asn525Ser) rs145654854
NM_014874.3(MFN2):c.1709A>G (p.Asn570Ser) rs376925978
NM_014874.3(MFN2):c.1724G>A (p.Arg575His) rs564375950
NM_014874.3(MFN2):c.1772_1773del (p.Gln591fs) rs1569868729
NM_014874.3(MFN2):c.1835C>A (p.Ser612Tyr) rs755299545
NM_014874.3(MFN2):c.1910C>T (p.Ser637Phe) rs1569870801
NM_014874.3(MFN2):c.1921T>C (p.Tyr641His) rs1569870930
NM_014874.3(MFN2):c.193G>T (p.Glu65Ter) rs1415276772
NM_014874.3(MFN2):c.1984A>G (p.Lys662Glu) rs1569871448
NM_014874.3(MFN2):c.1988G>T (p.Arg663Leu) rs766735605
NM_014874.3(MFN2):c.1994T>C (p.Phe665Ser) rs1569871530
NM_014874.3(MFN2):c.2018T>C (p.Leu673Pro) rs1569871653
NM_014874.3(MFN2):c.2116A>C (p.Thr706Pro) rs1569882675
NM_014874.3(MFN2):c.2120G>C (p.Arg707Pro) rs375937289
NM_014874.3(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223
NM_014874.3(MFN2):c.2140A>G (p.Ile714Val) rs779574187
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.2171T>C (p.Leu724Pro) rs1557537346
NM_014874.3(MFN2):c.2200C>G (p.Leu734Val) rs900143738
NM_014874.3(MFN2):c.2213C>T (p.Ala738Val) rs1569889919
NM_014874.3(MFN2):c.2218T>C (p.Trp740Arg) rs1557539004
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.221A>G (p.Gln74Arg) rs1569815882
NM_014874.3(MFN2):c.2220G>C (p.Trp740Cys) rs1060501925
NM_014874.3(MFN2):c.2222T>G (p.Leu741Trp) rs1553146559
NM_014874.3(MFN2):c.2229T>A (p.Ser743Arg) rs1569890121
NM_014874.3(MFN2):c.2230G>A (p.Glu744Lys) rs1064794571
NM_014874.3(MFN2):c.2230_2231delinsAT (p.Glu744Met) rs1569890153
NM_014874.3(MFN2):c.2234T>C (p.Leu745Pro) rs1553146569
NM_014874.3(MFN2):c.2240T>C (p.Met747Thr) rs879254059
NM_014874.3(MFN2):c.2249A>C (p.His750Pro) rs1569890311
NM_014874.3(MFN2):c.2251C>T (p.Gln751Ter) rs1557539119
NM_014874.3(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014874.3(MFN2):c.250A>G (p.Lys84Glu) rs1569816088
NM_014874.3(MFN2):c.275T>C (p.Leu92Pro) rs1569816285
NM_014874.3(MFN2):c.275T>G (p.Leu92Arg) rs1569816285
NM_014874.3(MFN2):c.280C>G (p.Arg94Gly) rs119103263
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.3(MFN2):c.281G>C (p.Arg94Pro) rs28940291
NM_014874.3(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.3(MFN2):c.299C>G (p.Ala100Gly) rs1553141707
NM_014874.3(MFN2):c.311+1G>T rs1569816606
NM_014874.3(MFN2):c.311G>A (p.Arg104Gln) rs863224068
NM_014874.3(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.3(MFN2):c.313A>G (p.Thr105Ala) rs1553142428
NM_014874.3(MFN2):c.314C>G (p.Thr105Arg) rs863224069
NM_014874.3(MFN2):c.368C>T (p.Pro123Leu) rs1569829761
NM_014874.3(MFN2):c.377T>G (p.Ile126Ser) rs1334228742
NM_014874.3(MFN2):c.380G>A (p.Gly127Asp) rs1569829855
NM_014874.3(MFN2):c.380G>T (p.Gly127Val) rs1569829855
NM_014874.3(MFN2):c.383A>G (p.His128Arg) rs1569829894
NM_014874.3(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.3(MFN2):c.395G>A (p.Cys132Tyr) rs1569830013
NM_014874.3(MFN2):c.408A>A
NM_014874.3(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.3(MFN2):c.474+4A>G rs141974160
NM_014874.3(MFN2):c.475-1G>C rs1569834500
NM_014874.3(MFN2):c.475-1G>T rs1569834500
NM_014874.3(MFN2):c.491C>T (p.Ala164Val) rs1553142699
NM_014874.3(MFN2):c.493C>G (p.His165Asp) rs119103262
NM_014874.3(MFN2):c.493C>T (p.His165Tyr) rs119103262
NM_014874.3(MFN2):c.494A>T (p.His165Leu) rs863224970
NM_014874.3(MFN2):c.496G>A (p.Ala166Thr) rs1569834732
NM_014874.3(MFN2):c.500T>C (p.Leu167Pro) rs1569834760
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.605G>C (p.Gly202Ala) rs1569842143
NM_014874.3(MFN2):c.609T>G (p.Ile203Met) rs1569842208
NM_014874.3(MFN2):c.612T>A (p.Asp204Glu) rs1569842258
NM_014874.3(MFN2):c.61A>G (p.Met21Val) rs1569802518
NM_014874.3(MFN2):c.638T>C (p.Ile213Thr) rs1557524703
NM_014874.3(MFN2):c.640G>A (p.Asp214Asn) rs1569842382
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.3(MFN2):c.661G>C (p.Asp221His) rs1569842525
NM_014874.3(MFN2):c.669T>A (p.Phe223Leu) rs1440006845
NM_014874.3(MFN2):c.677_688del (p.Val226_Ser229del) rs1569842627
NM_014874.3(MFN2):c.692C>T (p.Ser231Phe) rs1569842714
NM_014874.3(MFN2):c.694A>G (p.Thr232Ala) rs1553143165
NM_014874.3(MFN2):c.695C>A (p.Thr232Asn) rs1569842764
NM_014874.3(MFN2):c.697C>G (p.Leu233Val) rs1569842803
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.3(MFN2):c.708G>A (p.Thr236=) rs1557524867
NM_014874.3(MFN2):c.718T>A (p.Phe240Ile) rs1557525005
NM_014874.3(MFN2):c.725A>G (p.His242Arg) rs863224065
NM_014874.3(MFN2):c.742C>G (p.Leu248Val) rs1569843694
NM_014874.3(MFN2):c.748C>T (p.Arg250Trp) rs373107074
NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) rs140234726
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.3(MFN2):c.752C>G (p.Pro251Arg) rs1557525153
NM_014874.3(MFN2):c.752C>T (p.Pro251Leu) rs1557525153
NM_014874.3(MFN2):c.756C>A (p.Asn252Lys) rs137960129
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.3(MFN2):c.776G>A (p.Arg259His) rs755065651
NM_014874.3(MFN2):c.776G>T (p.Arg259Leu) rs755065651
NM_014874.3(MFN2):c.787T>C (p.Ser263Pro) rs1283917064
NM_014874.3(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.3(MFN2):c.821G>A (p.Arg274Gln) rs768407445
NM_014874.3(MFN2):c.828G>C (p.Gln276His) rs1569851570
NM_014874.3(MFN2):c.829C>T (p.His277Tyr) rs1569851586
NM_014874.3(MFN2):c.830A>G (p.His277Arg) rs1064794316
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) rs147136530
NM_014874.3(MFN2):c.851T>A (p.Phe284Tyr) rs1569851731
NM_014874.3(MFN2):c.864G>C (p.Glu288Asp) rs1569851796
NM_014874.3(MFN2):c.922G>T (p.Glu308Ter) rs1553143852
NM_014874.3(MFN2):c.986_988del (p.Glu329del) rs1569853108
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del) rs1478175861
NM_014874.4(MFN2):c.1138C>T (p.His380Tyr) rs1433849760
NM_014874.4(MFN2):c.1287+2T>G rs758721984
NM_014874.4(MFN2):c.1306GAG[1] (p.Glu437del) rs766213721
NM_014874.4(MFN2):c.1393-8G>A
NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu)
NM_014874.4(MFN2):c.1556G>A (p.Arg519His) rs373809750
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg)
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874
NM_014874.4(MFN2):c.176-3C>T
NM_014874.4(MFN2):c.2047A>C (p.Asn683His) rs1569871862
NM_014874.4(MFN2):c.2093A>G (p.His698Arg)
NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del)
NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg)
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488
NM_014874.4(MFN2):c.262A>G (p.Ile88Val)
NM_014874.4(MFN2):c.272T>G (p.Val91Gly) rs1569816262
NM_014874.4(MFN2):c.298G>T (p.Ala100Ser) rs1569816496
NM_014874.4(MFN2):c.306dup (p.Gly103fs) rs777012596
NM_014874.4(MFN2):c.30dup (p.Ile11fs) rs1569802246
NM_014874.4(MFN2):c.430G>A (p.Ala144Thr) rs1569830238
NM_014874.4(MFN2):c.472A>C (p.Lys158Gln) rs1569830408
NM_014874.4(MFN2):c.479_480del (p.Val160fs) rs763007983
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg)
NM_014874.4(MFN2):c.628G>C (p.Asp210His)
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys)
NM_014874.4(MFN2):c.708+5CTC[2] rs863224842
NM_014874.4(MFN2):c.718T>C (p.Phe240Leu) rs1557525005
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe)
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys)
NM_014874.4(MFN2):c.796G>C (p.Glu266Gln) rs1569844113
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys)
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala)
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu)

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