ClinVar Miner

List of variants in gene MFN2 studied for hereditary peripheral neuropathy

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1097
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.*58A>G rs1042842 0.71104
NM_014874.4(MFN2):c.*896G>C rs3088064 0.55119
NM_014874.4(MFN2):c.2204+15T>C rs77262016 0.07571
NM_014874.4(MFN2):c.*1488C>T rs11554507 0.05161
NM_014874.4(MFN2):c.*912C>T rs14305 0.04860
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_014874.4(MFN2):c.*1100A>G rs41278638 0.04352
NM_014874.4(MFN2):c.-149-15T>G rs114306601 0.02587
NM_014874.4(MFN2):c.*1161C>A rs115706485 0.02302
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_014874.4(MFN2):c.*1576C>T rs78523898 0.02185
NM_014874.4(MFN2):c.*730C>T rs112550280 0.02163
NM_014874.4(MFN2):c.*231G>A rs41278636 0.01666
NM_014874.4(MFN2):c.*777T>C rs112854268 0.01628
NM_014874.3(MFN2):c.-249T>A rs2180182 0.01549
NM_014874.3(MFN2):c.-287C>T rs2180181 0.01549
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_014874.4(MFN2):c.1039-19G>A rs74052923 0.01120
NM_014874.4(MFN2):c.*304A>G rs80118679 0.00841
NM_014874.4(MFN2):c.970+19G>A rs75865135 0.00707
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_014874.4(MFN2):c.*1034C>T rs56333319 0.00427
NM_014874.4(MFN2):c.975C>T (p.Gly325=) rs141475476 0.00357
NM_014874.4(MFN2):c.*1830C>T rs74609163 0.00341
NM_014874.4(MFN2):c.*15G>A rs141339523 0.00292
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.663T>C (p.Asp221=) rs116504054 0.00184
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_014874.4(MFN2):c.*1546G>A rs3737960 0.00074
NM_014874.4(MFN2):c.-4-13G>T rs373679523 0.00060
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_014874.4(MFN2):c.72G>T (p.Val24=) rs138454088 0.00044
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_014874.4(MFN2):c.1728C>T (p.Pro576=) rs147802404 0.00036
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_014874.4(MFN2):c.*413C>T rs558887681 0.00031
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_014874.4(MFN2):c.*1054C>T rs951038336 0.00025
NM_014874.4(MFN2):c.*1539G>A rs557643473 0.00025
NM_014874.4(MFN2):c.1101G>C (p.Gln367His) rs373211062 0.00024
NM_014874.4(MFN2):c.*1535C>T rs778755558 0.00021
NM_014874.4(MFN2):c.*946C>A rs765105334 0.00019
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_014874.4(MFN2):c.971-16A>G rs374822911 0.00019
NM_014874.4(MFN2):c.175+9G>A rs373340717 0.00018
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_014874.4(MFN2):c.444C>T (p.Thr148=) rs373038884 0.00017
NM_014874.4(MFN2):c.*1794_*1796del rs540280019 0.00016
NM_014874.4(MFN2):c.1463A>G (p.Asn488Ser) rs147785658 0.00016
NM_014874.4(MFN2):c.2069+16G>A rs376673392 0.00016
NM_014874.4(MFN2):c.*1276G>A rs766342161 0.00014
NM_014874.4(MFN2):c.-161G>A rs140094248 0.00014
NM_014874.4(MFN2):c.1287+13G>C rs543940912 0.00014
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
NM_014874.4(MFN2):c.870C>T (p.Gly290=) rs368302487 0.00014
NM_014874.4(MFN2):c.1476C>A (p.Thr492=) rs143428548 0.00013
NM_014874.4(MFN2):c.*256G>A rs557772799 0.00012
NM_014874.4(MFN2):c.*1153C>T rs542684406 0.00011
NM_014874.4(MFN2):c.*26G>A rs374800481 0.00011
NM_014874.4(MFN2):c.*36G>A rs377468070 0.00011
NM_014874.4(MFN2):c.1199G>A (p.Arg400Gln) rs138072432 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_014874.4(MFN2):c.*1706T>G rs543365043 0.00010
NM_014874.4(MFN2):c.*813G>A rs771869272 0.00010
NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser) rs145654854 0.00010
NM_014874.4(MFN2):c.2112C>T (p.Asp704=) rs374371748 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_014874.4(MFN2):c.1150C>T (p.Arg384Trp) rs777353788 0.00009
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr) rs61733203 0.00008
NM_014874.4(MFN2):c.857T>C (p.Val286Ala) rs765825496 0.00008
NM_014874.4(MFN2):c.1617A>G (p.Glu539=) rs556515947 0.00007
NM_014874.4(MFN2):c.175+14G>A rs202139103 0.00007
NM_014874.4(MFN2):c.2130G>A (p.Leu710=) rs755608041 0.00007
NM_014874.4(MFN2):c.475-17C>A rs759684850 0.00007
NM_014874.4(MFN2):c.1779G>A (p.Ser593=) rs367623682 0.00006
NM_014874.4(MFN2):c.*1295G>A rs763783578 0.00005
NM_014874.4(MFN2):c.1460C>G (p.Thr487Ser) rs142110794 0.00005
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_014874.4(MFN2):c.2204+12C>T rs373553143 0.00005
NM_014874.4(MFN2):c.2259G>A (p.Leu753=) rs1045537458 0.00005
NM_014874.4(MFN2):c.1108G>C (p.Glu370Gln) rs377402479 0.00004
NM_014874.4(MFN2):c.1269G>A (p.Thr423=) rs145994616 0.00004
NM_014874.4(MFN2):c.1288-10T>C rs201151182 0.00004
NM_014874.4(MFN2):c.1451C>T (p.Thr484Met) rs375480365 0.00004
NM_014874.4(MFN2):c.1528C>T (p.Arg510Trp) rs146092040 0.00004
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131 0.00004
NM_014874.4(MFN2):c.176-7C>T rs374055101 0.00004
NM_014874.4(MFN2):c.1762C>T (p.Pro588Ser) rs771043011 0.00004
NM_014874.4(MFN2):c.2010C>T (p.Ser670=) rs777640054 0.00004
NM_014874.4(MFN2):c.2069+15C>T rs375924621 0.00004
NM_014874.4(MFN2):c.2070-11C>G rs759614417 0.00004
NM_014874.4(MFN2):c.231C>T (p.Asp77=) rs763489927 0.00004
NM_014874.4(MFN2):c.522T>C (p.His174=) rs762789747 0.00004
NM_014874.4(MFN2):c.543G>A (p.Val181=) rs183226846 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_014874.4(MFN2):c.647T>C (p.Phe216Ser) rs387906990 0.00004
NM_014874.4(MFN2):c.933C>T (p.Asn311=) rs150857365 0.00004
NM_014874.4(MFN2):c.*1562G>A rs551566332 0.00003
NM_014874.4(MFN2):c.*1662T>C rs1020801224 0.00003
NM_014874.4(MFN2):c.*297T>A rs886045224 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_014874.4(MFN2):c.1113G>A (p.Ala371=) rs766570486 0.00003
NM_014874.4(MFN2):c.1146G>A (p.Ala382=) rs752630853 0.00003
NM_014874.4(MFN2):c.1171G>A (p.Glu391Lys) rs756800190 0.00003
NM_014874.4(MFN2):c.1181G>A (p.Arg394His) rs538243357 0.00003
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser) rs1354203259 0.00003
NM_014874.4(MFN2):c.1392+7C>A rs759251276 0.00003
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_014874.4(MFN2):c.1816G>A (p.Gly606Ser) rs149122641 0.00003
NM_014874.4(MFN2):c.1873-16A>T rs190961216 0.00003
NM_014874.4(MFN2):c.1976G>A (p.Arg659Lys) rs863224063 0.00003
NM_014874.4(MFN2):c.1988G>T (p.Arg663Leu) rs766735605 0.00003
NM_014874.4(MFN2):c.204C>T (p.Pro68=) rs148399574 0.00003
NM_014874.4(MFN2):c.2145C>T (p.Ala715=) rs571011689 0.00003
NM_014874.4(MFN2):c.2166G>C (p.Glu722Asp) rs764268203 0.00003
NM_014874.4(MFN2):c.2182C>A (p.Gln728Lys) rs761544980 0.00003
NM_014874.4(MFN2):c.2215G>A (p.Gly739Ser) rs1402367279 0.00003
NM_014874.4(MFN2):c.33C>T (p.Ile11=) rs756450319 0.00003
NM_014874.4(MFN2):c.765C>G (p.Ile255Met) rs376327713 0.00003
NM_014874.4(MFN2):c.821G>A (p.Arg274Gln) rs768407445 0.00003
NM_014874.4(MFN2):c.822G>A (p.Arg274=) rs528330690 0.00003
NM_014874.4(MFN2):c.970+13A>G rs771746625 0.00003
NM_014874.4(MFN2):c.1061T>C (p.Val354Ala) rs1057518235 0.00002
NM_014874.4(MFN2):c.1112C>T (p.Ala371Val) rs201675158 0.00002
NM_014874.4(MFN2):c.1180C>T (p.Arg394Cys) rs186448929 0.00002
NM_014874.4(MFN2):c.1238A>C (p.Gln413Pro) rs375335641 0.00002
NM_014874.4(MFN2):c.1257T>G (p.Ile419Met) rs749893944 0.00002
NM_014874.4(MFN2):c.1305C>T (p.Ala435=) rs1374507919 0.00002
NM_014874.4(MFN2):c.1402C>T (p.Arg468Cys) rs746852710 0.00002
NM_014874.4(MFN2):c.1480C>A (p.Gln494Lys) rs141775063 0.00002
NM_014874.4(MFN2):c.1522T>A (p.Ser508Thr) rs751397699 0.00002
NM_014874.4(MFN2):c.1818C>T (p.Gly606=) rs373843969 0.00002
NM_014874.4(MFN2):c.1836C>G (p.Ser612=) rs779401482 0.00002
NM_014874.4(MFN2):c.1873-4G>C rs369338141 0.00002
NM_014874.4(MFN2):c.187A>C (p.Asn63His) rs761216583 0.00002
NM_014874.4(MFN2):c.2070-20C>T rs776626503 0.00002
NM_014874.4(MFN2):c.2070-4C>G rs762750555 0.00002
NM_014874.4(MFN2):c.2204+14G>A rs757577429 0.00002
NM_014874.4(MFN2):c.311+9T>C rs771439230 0.00002
NM_014874.4(MFN2):c.334G>A (p.Val112Met) rs757937208 0.00002
NM_014874.4(MFN2):c.34G>A (p.Val12Ile) rs367715413 0.00002
NM_014874.4(MFN2):c.445G>A (p.Glu149Lys) rs754016178 0.00002
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg) rs756851126 0.00002
NM_014874.4(MFN2):c.544A>G (p.Met182Val) rs1338701016 0.00002
NM_014874.4(MFN2):c.610G>A (p.Asp204Asn) rs781651055 0.00002
NM_014874.4(MFN2):c.645G>A (p.Lys215=) rs767693664 0.00002
NM_014874.4(MFN2):c.693C>T (p.Ser231=) rs774356643 0.00002
NM_014874.4(MFN2):c.696C>G (p.Thr232=) rs769923700 0.00002
NM_014874.4(MFN2):c.723C>T (p.Phe241=) rs764912025 0.00002
NM_014874.4(MFN2):c.740G>A (p.Arg247His) rs762189054 0.00002
NM_014874.4(MFN2):c.809T>C (p.Met270Thr) rs771996573 0.00002
NM_014874.4(MFN2):c.823C>T (p.Arg275Trp) rs368499636 0.00002
NM_014874.4(MFN2):c.824G>A (p.Arg275Gln) rs560470663 0.00002
NM_014874.4(MFN2):c.876G>T (p.Val292=) rs758376405 0.00002
NM_014874.4(MFN2):c.*1222G>A rs531732785 0.00001
NM_014874.4(MFN2):c.*131G>A rs1639706861 0.00001
NM_014874.4(MFN2):c.*1902C>T rs933126234 0.00001
NM_014874.4(MFN2):c.*226C>T rs184254413 0.00001
NM_014874.4(MFN2):c.*870C>T rs886045227 0.00001
NM_014874.4(MFN2):c.1039-20C>T rs1253046105 0.00001
NM_014874.4(MFN2):c.1064A>G (p.Lys355Arg) rs143747551 0.00001
NM_014874.4(MFN2):c.1086G>A (p.Thr362=) rs749652300 0.00001
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln) rs142042485 0.00001
NM_014874.4(MFN2):c.1145C>T (p.Ala382Val) rs201165591 0.00001
NM_014874.4(MFN2):c.1161-7C>T rs1414918598 0.00001
NM_014874.4(MFN2):c.1162G>A (p.Val388Ile) rs924011766 0.00001
NM_014874.4(MFN2):c.1170C>T (p.Cys390=) rs1639292680 0.00001
NM_014874.4(MFN2):c.117C>A (p.Ile39=) rs1288073943 0.00001
NM_014874.4(MFN2):c.1189C>T (p.Arg397Trp) rs758948968 0.00001
NM_014874.4(MFN2):c.1190G>A (p.Arg397Gln) rs778219078 0.00001
NM_014874.4(MFN2):c.1191G>A (p.Arg397=) rs758952131 0.00001
NM_014874.4(MFN2):c.1202T>G (p.Leu401Arg) rs1161492440 0.00001
NM_014874.4(MFN2):c.1208T>G (p.Phe403Cys) rs769905428 0.00001
NM_014874.4(MFN2):c.120T>C (p.Asn40=) rs756467977 0.00001
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln) rs766998571 0.00001
NM_014874.4(MFN2):c.1267A>G (p.Thr423Ala) rs765921889 0.00001
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu) rs764374251 0.00001
NM_014874.4(MFN2):c.1293G>T (p.Ser431=) rs751915674 0.00001
NM_014874.4(MFN2):c.1304C>G (p.Ala435Gly) rs1030984908 0.00001
NM_014874.4(MFN2):c.1318C>T (p.Arg440Cys) rs756110507 0.00001
NM_014874.4(MFN2):c.1338C>T (p.Asp446=) rs376300393 0.00001
NM_014874.4(MFN2):c.1367C>T (p.Pro456Leu) rs78658090 0.00001
NM_014874.4(MFN2):c.1374C>G (p.Val458=) rs760253679 0.00001
NM_014874.4(MFN2):c.1393-14T>A rs779242620 0.00001
NM_014874.4(MFN2):c.1413G>A (p.Glu471=) rs745360979 0.00001
NM_014874.4(MFN2):c.1424G>A (p.Gly475Asp) rs774967287 0.00001
NM_014874.4(MFN2):c.1432A>G (p.Met478Val) rs953946892 0.00001
NM_014874.4(MFN2):c.1441C>T (p.Arg481Cys) rs762264240 0.00001
NM_014874.4(MFN2):c.1442G>A (p.Arg481His) rs767718891 0.00001
NM_014874.4(MFN2):c.1453G>A (p.Ala485Thr) rs1320374657 0.00001
NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu) rs746806455 0.00001
NM_014874.4(MFN2):c.1537A>G (p.Ile513Val) rs755657087 0.00001
NM_014874.4(MFN2):c.1556G>A (p.Arg519His) rs373809750 0.00001
NM_014874.4(MFN2):c.1564T>C (p.Phe522Leu) rs747397065 0.00001
NM_014874.4(MFN2):c.1605T>C (p.Ala535=) rs575884069 0.00001
NM_014874.4(MFN2):c.163A>T (p.Thr55Ser) rs776423551 0.00001
NM_014874.4(MFN2):c.1717-12T>G rs757942090 0.00001
NM_014874.4(MFN2):c.1717-15T>C rs752294693 0.00001
NM_014874.4(MFN2):c.1717-17C>T rs765243288 0.00001
NM_014874.4(MFN2):c.1724G>A (p.Arg575His) rs564375950 0.00001
NM_014874.4(MFN2):c.1729A>G (p.Ile577Val) rs749606728 0.00001
NM_014874.4(MFN2):c.175+12C>A rs186824858 0.00001
NM_014874.4(MFN2):c.1750C>A (p.Pro584Thr) rs773308500 0.00001
NM_014874.4(MFN2):c.175G>T (p.Asp59Tyr) rs1311434220 0.00001
NM_014874.4(MFN2):c.176-4C>T rs546254672 0.00001
NM_014874.4(MFN2):c.1770A>G (p.Pro590=) rs776537176 0.00001
NM_014874.4(MFN2):c.1778C>T (p.Ser593Leu) rs759372833 0.00001
NM_014874.4(MFN2):c.1782C>T (p.Leu594=) rs950932066 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 0.00001
NM_014874.4(MFN2):c.1815C>T (p.Thr605=) rs751029047 0.00001
NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr) rs1639431440 0.00001
NM_014874.4(MFN2):c.1824C>T (p.Ala608=) rs774988978 0.00001
NM_014874.4(MFN2):c.1858G>A (p.Val620Ile) rs200936779 0.00001
NM_014874.4(MFN2):c.1872+20C>T rs549245117 0.00001
NM_014874.4(MFN2):c.1873-14C>G rs770138133 0.00001
NM_014874.4(MFN2):c.1908C>G (p.Leu636=) rs540183905 0.00001
NM_014874.4(MFN2):c.1909T>A (p.Ser637Thr) rs763185826 0.00001
NM_014874.4(MFN2):c.190G>A (p.Ala64Thr) rs922058129 0.00001
NM_014874.4(MFN2):c.1922A>G (p.Tyr641Cys) rs866276988 0.00001
NM_014874.4(MFN2):c.1946G>A (p.Arg649His) rs763492075 0.00001
NM_014874.4(MFN2):c.1951A>G (p.Thr651Ala) rs772756022 0.00001
NM_014874.4(MFN2):c.1971G>A (p.Lys657=) rs764308150 0.00001
NM_014874.4(MFN2):c.1978G>A (p.Ala660Thr) rs762292163 0.00001
NM_014874.4(MFN2):c.1979C>A (p.Ala660Asp) rs377090439 0.00001
NM_014874.4(MFN2):c.1981T>C (p.Phe661Leu) rs1204925465 0.00001
NM_014874.4(MFN2):c.1986G>A (p.Lys662=) rs1260208756 0.00001
NM_014874.4(MFN2):c.1995T>G (p.Phe665Leu) rs755219120 0.00001
NM_014874.4(MFN2):c.2016G>A (p.Lys672=) rs187058104 0.00001
NM_014874.4(MFN2):c.2020C>A (p.Gln674Lys) rs770361817 0.00001
NM_014874.4(MFN2):c.2021A>C (p.Gln674Pro) rs1410698026 0.00001
NM_014874.4(MFN2):c.2048A>G (p.Asn683Ser) rs762213417 0.00001
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 0.00001
NM_014874.4(MFN2):c.2060A>G (p.Gln687Arg) rs879253910 0.00001
NM_014874.4(MFN2):c.2069+10C>T rs1243140256 0.00001
NM_014874.4(MFN2):c.2069+9C>T rs760838540 0.00001
NM_014874.4(MFN2):c.2147C>T (p.Ala716Val) rs771589792 0.00001
NM_014874.4(MFN2):c.2158A>G (p.Lys720Glu) rs1450205264 0.00001
NM_014874.4(MFN2):c.2160A>G (p.Lys720=) rs769855660 0.00001
NM_014874.4(MFN2):c.2162T>C (p.Ile721Thr) rs150946795 0.00001
NM_014874.4(MFN2):c.2185A>G (p.Ser729Gly) rs1274191966 0.00001
NM_014874.4(MFN2):c.2204+10G>T rs1445631790 0.00001
NM_014874.4(MFN2):c.2204+13C>T rs200441797 0.00001
NM_014874.4(MFN2):c.2221T>G (p.Leu741Val) rs1060501917 0.00001
NM_014874.4(MFN2):c.2253G>A (p.Gln751=) rs948203067 0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 0.00001
NM_014874.4(MFN2):c.227T>G (p.Leu76Arg) rs28940293 0.00001
NM_014874.4(MFN2):c.232G>A (p.Val78Ile) rs764695837 0.00001
NM_014874.4(MFN2):c.236A>G (p.Lys79Arg) rs1262941514 0.00001
NM_014874.4(MFN2):c.311+8C>T rs747730092 0.00001
NM_014874.4(MFN2):c.312-19A>G rs756393202 0.00001
NM_014874.4(MFN2):c.315G>A (p.Thr105=) rs75138257 0.00001
NM_014874.4(MFN2):c.31A>G (p.Ile11Val) rs763735861 0.00001
NM_014874.4(MFN2):c.32T>C (p.Ile11Thr) rs777625403 0.00001
NM_014874.4(MFN2):c.395G>A (p.Cys132Tyr) rs1569830013 0.00001
NM_014874.4(MFN2):c.404G>A (p.Arg135Gln) rs1443036026 0.00001
NM_014874.4(MFN2):c.415A>G (p.Thr139Ala) rs1349977366 0.00001
NM_014874.4(MFN2):c.46A>C (p.Lys16Gln) rs748233037 0.00001
NM_014874.4(MFN2):c.49A>G (p.Asn17Asp) rs772477199 0.00001
NM_014874.4(MFN2):c.525C>T (p.Ala175=) rs751505990 0.00001
NM_014874.4(MFN2):c.541G>A (p.Val181Met) rs863224064 0.00001
NM_014874.4(MFN2):c.558T>C (p.Ser186=) rs1280915201 0.00001
NM_014874.4(MFN2):c.558dup (p.Lys187Ter) rs772732232 0.00001
NM_014874.4(MFN2):c.582C>T (p.Asp194=) rs772441576 0.00001
NM_014874.4(MFN2):c.585C>T (p.Leu195=) rs200719689 0.00001
NM_014874.4(MFN2):c.600-7C>T rs1173229373 0.00001
NM_014874.4(MFN2):c.608T>C (p.Ile203Thr) rs200715905 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NM_014874.4(MFN2):c.709-9T>C rs776259256 0.00001
NM_014874.4(MFN2):c.725A>G (p.His242Arg) rs863224065 0.00001
NM_014874.4(MFN2):c.739C>T (p.Arg247Cys) rs369948853 0.00001
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp) rs373107074 0.00001
NM_014874.4(MFN2):c.776G>A (p.Arg259His) rs755065651 0.00001
NM_014874.4(MFN2):c.78A>G (p.Ala26=) rs764662159 0.00001
NM_014874.4(MFN2):c.801C>T (p.Pro267=) rs201550384 0.00001
NM_014874.4(MFN2):c.816+4C>T rs374018931 0.00001
NM_014874.4(MFN2):c.817-7G>A rs769298272 0.00001
NM_014874.4(MFN2):c.820C>T (p.Arg274Trp) rs762440627 0.00001
NM_014874.4(MFN2):c.84A>C (p.Pro28=) rs554067157 0.00001
NM_014874.4(MFN2):c.852C>T (p.Phe284=) rs1420158447 0.00001
NM_014874.4(MFN2):c.899G>A (p.Arg300His) rs1226075443 0.00001
NM_014874.4(MFN2):c.932A>G (p.Asn311Ser) rs748838916 0.00001
NM_014874.4(MFN2):c.945G>A (p.Gln315=) rs1569852176 0.00001
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu) rs1424551887 0.00001
NM_014874.4(MFN2):c.963T>G (p.Pro321=) rs1464024708 0.00001
NM_014874.4(MFN2):c.977C>T (p.Ala326Val) rs778350613 0.00001
NM_014874.4(MFN2):c.982G>A (p.Ala328Thr) rs771900151 0.00001
GRCh37/hg19 1p36.22(chr1:12058633-12059409)x1
NC_000001.10:g.(?_12049226)_(12059172_?)del
NC_000001.10:g.(?_12049226)_(12065004_?)del
NC_000001.10:g.(?_12052592)_(12052767_?)dup
NC_000001.10:g.(?_12052592)_(12057498_?)dup
NC_000001.10:g.(?_12052592)_(12071622_?)dup
NC_000001.10:g.(?_12052602)_(12057488_?)dup
NC_000001.10:g.(?_12056193)_(12056395_?)del
NC_000001.10:g.(?_12057334)_(12059172_?)del
NC_000001.10:g.(?_12058807)_(12059172_?)del
NC_000001.10:g.(?_12058807)_(12059172_?)dup
NC_000001.10:g.(?_12058817)_(12059162_?)del
NC_000001.10:g.(?_12060714)_(12067233_?)del
NC_000001.10:g.(?_12064039)_(12069793_?)dup
NC_000001.10:g.(?_12069639)_(12069793_?)del
NC_000001.10:g.(?_12071543)_(12071632_?)dup
NC_000001.11:g.12001772del
NC_000001.11:g.12001772dup
NM_014874.3(MFN2):c.-217C>A rs886045218
NM_014874.3(MFN2):c.600-?_816+?del
NM_014874.3:c.600_816del
NM_014874.4(MFN2):c.*1068C>T rs886045229
NM_014874.4(MFN2):c.*121A>G rs886045222
NM_014874.4(MFN2):c.*1258G>A rs116156978
NM_014874.4(MFN2):c.*1392A>G rs886045230
NM_014874.4(MFN2):c.*1640del rs35943162
NM_014874.4(MFN2):c.*1640dup rs35943162
NM_014874.4(MFN2):c.*1763G>A rs1639769422
NM_014874.4(MFN2):c.*1797GTT[1] rs140537612
NM_014874.4(MFN2):c.*221_*222dup rs558848411
NM_014874.4(MFN2):c.*381C>A rs966318629
NM_014874.4(MFN2):c.*57C>T rs886045221
NM_014874.4(MFN2):c.*610del rs747291228
NM_014874.4(MFN2):c.*864T>C rs886045226
NM_014874.4(MFN2):c.*935G>T rs886045228
NM_014874.4(MFN2):c.-80C>T rs7538183
NM_014874.4(MFN2):c.1002G>A (p.Arg334=) rs1410500132
NM_014874.4(MFN2):c.1003A>G (p.Met335Val) rs1557527886
NM_014874.4(MFN2):c.1017G>A (p.Gln339=) rs2100840368
NM_014874.4(MFN2):c.1024G>C (p.Glu342Gln) rs1557527906
NM_014874.4(MFN2):c.1036G>T (p.Glu346Ter)
NM_014874.4(MFN2):c.1038+16C>G rs2100840444
NM_014874.4(MFN2):c.1038+17_1038+20dup
NM_014874.4(MFN2):c.1038+7C>T
NM_014874.4(MFN2):c.1039-11G>C rs777588423
NM_014874.4(MFN2):c.1039-12T>C
NM_014874.4(MFN2):c.1039-12TG[2] rs780237550
NM_014874.4(MFN2):c.1039-15C>T
NM_014874.4(MFN2):c.1039-16C>T
NM_014874.4(MFN2):c.1039-19G>T rs74052923
NM_014874.4(MFN2):c.1039-9G>T rs1569853844
NM_014874.4(MFN2):c.1040A>T (p.Glu347Val) rs1569853875
NM_014874.4(MFN2):c.1042T>C (p.Cys348Arg) rs1639195979
NM_014874.4(MFN2):c.1047C>T (p.Ile349=) rs2100840933
NM_014874.4(MFN2):c.1048T>C (p.Ser350Pro) rs1569853900
NM_014874.4(MFN2):c.1061T>G (p.Val354Gly) rs1057518235
NM_014874.4(MFN2):c.1064_1066del (p.Lys355del) rs1569853941
NM_014874.4(MFN2):c.1065G>T (p.Lys355Asn)
NM_014874.4(MFN2):c.1066A>G (p.Thr356Ala) rs1569853967
NM_014874.4(MFN2):c.1067C>A (p.Thr356Asn) rs1569853976
NM_014874.4(MFN2):c.1067C>G (p.Thr356Ser)
NM_014874.4(MFN2):c.1069A>G (p.Lys357Glu) rs2100841026
NM_014874.4(MFN2):c.1070A>C (p.Lys357Thr) rs2100841033
NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.4(MFN2):c.1078C>G (p.Gln360Glu) rs1064795818
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del) rs1478175861
NM_014874.4(MFN2):c.1081C>T (p.His361Tyr) rs1569854012
NM_014874.4(MFN2):c.1082A>C (p.His361Pro) rs1064793170
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.1085C>G (p.Thr362Arg) rs387906991
NM_014874.4(MFN2):c.1086G>C (p.Thr362=)
NM_014874.4(MFN2):c.1090C>A (p.Arg364=) rs119103265
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.1091G>C (p.Arg364Pro) rs879254011
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.1094C>T (p.Ala365Val) rs868500000
NM_014874.4(MFN2):c.10C>T (p.Leu4Phe)
NM_014874.4(MFN2):c.1100A>C (p.Gln367Pro)
NM_014874.4(MFN2):c.1102A>G (p.Ile368Val)
NM_014874.4(MFN2):c.1113G>C (p.Ala371=)
NM_014874.4(MFN2):c.1113G>T (p.Ala371=)
NM_014874.4(MFN2):c.1117C>T (p.Arg373Ter) rs1639200820
NM_014874.4(MFN2):c.1121T>G (p.Leu374Arg)
NM_014874.4(MFN2):c.1126A>C (p.Met376Leu) rs863224967
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.1127T>G (p.Met376Arg) rs1569854342
NM_014874.4(MFN2):c.1128G>A (p.Met376Ile) rs1553144059
NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro) rs1569854381
NM_014874.4(MFN2):c.1134_1142del (p.Leu379_Met381del) rs1569854405
NM_014874.4(MFN2):c.1136T>C (p.Leu379Pro) rs1064797107
NM_014874.4(MFN2):c.1137G>A (p.Leu379=)
NM_014874.4(MFN2):c.1138C>T (p.His380Tyr) rs1433849760
NM_014874.4(MFN2):c.113A>T (p.Lys38Met)
NM_014874.4(MFN2):c.1140C>T (p.His380=)
NM_014874.4(MFN2):c.1141A>G (p.Met381Val) rs762210837
NM_014874.4(MFN2):c.1141A>T (p.Met381Leu) rs762210837
NM_014874.4(MFN2):c.1143GGC[1] (p.Ala383del) rs1553144065
NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro) rs1553144066
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val) rs794727035
NM_014874.4(MFN2):c.1150C>G (p.Arg384Gly)
NM_014874.4(MFN2):c.1151G>A (p.Arg384Gln) rs565042936
NM_014874.4(MFN2):c.1156C>T (p.Gln386Ter)
NM_014874.4(MFN2):c.1157_1158inv (p.Gln386Pro)
NM_014874.4(MFN2):c.1160+10C>T
NM_014874.4(MFN2):c.1160+16T>G
NM_014874.4(MFN2):c.1160+19A>G
NM_014874.4(MFN2):c.1160+1G>A rs1553144086
NM_014874.4(MFN2):c.1161-16A>T
NM_014874.4(MFN2):c.1161-17C>T
NM_014874.4(MFN2):c.1161-45_1161-14del rs2100846924
NM_014874.4(MFN2):c.1161G>C (p.Gln387His)
NM_014874.4(MFN2):c.1161G>T (p.Gln387His) rs2100847056
NM_014874.4(MFN2):c.1168T>C (p.Cys390Arg) rs1569859647
NM_014874.4(MFN2):c.1169G>T (p.Cys390Phe) rs1569859660
NM_014874.4(MFN2):c.1182T>G (p.Arg394=)
NM_014874.4(MFN2):c.118A>C (p.Asn40His) rs1026123951
NM_014874.4(MFN2):c.118A>G (p.Asn40Asp) rs1026123951
NM_014874.4(MFN2):c.1194A>G (p.Gln398=) rs555006809
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter) rs879253939
NM_014874.4(MFN2):c.1199G>C (p.Arg400Pro) rs138072432
NM_014874.4(MFN2):c.1201C>T (p.Leu401=)
NM_014874.4(MFN2):c.1210A>G (p.Ile404Val)
NM_014874.4(MFN2):c.1215C>T (p.Asp405=)
NM_014874.4(MFN2):c.1220A>G (p.Gln407Arg) rs1639295881
NM_014874.4(MFN2):c.1221G>T (p.Gln407His) rs1279266159
NM_014874.4(MFN2):c.1225G>C (p.Glu409Gln)
NM_014874.4(MFN2):c.1228C>A (p.Leu410Ile)
NM_014874.4(MFN2):c.122G>A (p.Gly41Asp) rs2100802868
NM_014874.4(MFN2):c.1236T>C (p.Ala412=) rs2100847372
NM_014874.4(MFN2):c.1241A>T (p.Asp414Val) rs1569860081
NM_014874.4(MFN2):c.1243T>C (p.Tyr415His)
NM_014874.4(MFN2):c.1244A>G (p.Tyr415Cys) rs1278360900
NM_014874.4(MFN2):c.1247A>T (p.Lys416Met) rs1639297626
NM_014874.4(MFN2):c.1251G>T (p.Leu417=) rs1291955409
NM_014874.4(MFN2):c.1252C>G (p.Arg418Gly)
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.1253G>T (p.Arg418Leu) rs766998571
NM_014874.4(MFN2):c.1268C>T (p.Thr423Met) rs8192303
NM_014874.4(MFN2):c.1271A>G (p.Glu424Gly) rs1557530247
NM_014874.4(MFN2):c.1284G>T (p.Arg428Ser) rs2100847602
NM_014874.4(MFN2):c.1287+10GAG[2]
NM_014874.4(MFN2):c.1287+19G>A rs994622836
NM_014874.4(MFN2):c.1287+1G>C rs1639299226
NM_014874.4(MFN2):c.1287+2T>G rs758721984
NM_014874.4(MFN2):c.1287+4A>G rs1162804216
NM_014874.4(MFN2):c.1287+6A>G rs778274550
NM_014874.4(MFN2):c.1288-16C>T
NM_014874.4(MFN2):c.1288-4G>A
NM_014874.4(MFN2):c.1288-5T>C rs763320321
NM_014874.4(MFN2):c.1288G>A (p.Val430Met)
NM_014874.4(MFN2):c.1292C>A (p.Ser431Ter) rs764374251
NM_014874.4(MFN2):c.1293G>A (p.Ser431=) rs751915674
NM_014874.4(MFN2):c.1296T>C (p.Thr432=) rs2100848678
NM_014874.4(MFN2):c.1300A>G (p.Met434Val)
NM_014874.4(MFN2):c.1301T>A (p.Met434Lys)
NM_014874.4(MFN2):c.1306G>A (p.Glu436Lys)
NM_014874.4(MFN2):c.1306GAG[1] (p.Glu437del) rs766213721
NM_014874.4(MFN2):c.1319G>A (p.Arg440His)
NM_014874.4(MFN2):c.1322T>C (p.Leu441Pro) rs1557530701
NM_014874.4(MFN2):c.1327G>A (p.Val443Ile) rs780450613
NM_014874.4(MFN2):c.1327G>C (p.Val443Leu)
NM_014874.4(MFN2):c.1330C>G (p.Leu444Val) rs1639318979
NM_014874.4(MFN2):c.1330C>T (p.Leu444=) rs1639318979
NM_014874.4(MFN2):c.1331T>C (p.Leu444Pro) rs1569861490
NM_014874.4(MFN2):c.1332G>A (p.Leu444=)
NM_014874.4(MFN2):c.1332G>T (p.Leu444=) rs142848213
NM_014874.4(MFN2):c.1333G>A (p.Val445Met) rs1639319467
NM_014874.4(MFN2):c.1339G>A (p.Asp447Asn) rs368032696
NM_014874.4(MFN2):c.1341T>C (p.Asp447=)
NM_014874.4(MFN2):c.1344C>T (p.Tyr448=) rs2100848957
NM_014874.4(MFN2):c.134A>G (p.Gln45Arg) rs1569802992
NM_014874.4(MFN2):c.1356C>T (p.Phe452=)
NM_014874.4(MFN2):c.1357C>T (p.His453Tyr)
NM_014874.4(MFN2):c.1360C>A (p.Pro454Thr)
NM_014874.4(MFN2):c.136del (p.Leu46fs) rs1569803014
NM_014874.4(MFN2):c.1375C>T (p.Leu459Phe) rs1639321356
NM_014874.4(MFN2):c.1380G>A (p.Lys460=)
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys) rs2100849130
NM_014874.4(MFN2):c.1392+12A>G
NM_014874.4(MFN2):c.1392+1G>A rs1569861708
NM_014874.4(MFN2):c.1392+20G>T rs1367301944
NM_014874.4(MFN2):c.1392+2T>C rs111723244
NM_014874.4(MFN2):c.1392+3G>A
NM_014874.4(MFN2):c.1393-12_1393-11insA
NM_014874.4(MFN2):c.1393-4G>T
NM_014874.4(MFN2):c.1393-7G>A rs906719272
NM_014874.4(MFN2):c.1393-8G>A rs1639330742
NM_014874.4(MFN2):c.1406A>G (p.His469Arg)
NM_014874.4(MFN2):c.140G>C (p.Gly47Ala) rs1263406133
NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.4(MFN2):c.1427G>A (p.Arg476Gln)
NM_014874.4(MFN2):c.142G>A (p.Ala48Thr)
NM_014874.4(MFN2):c.1433T>C (p.Met478Thr)
NM_014874.4(MFN2):c.1434G>A (p.Met478Ile)
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys) rs1639333679
NM_014874.4(MFN2):c.1447T>C (p.Ser483Pro) rs1639334188
NM_014874.4(MFN2):c.1448C>T (p.Ser483Phe)
NM_014874.4(MFN2):c.1454C>T (p.Ala485Val)
NM_014874.4(MFN2):c.1455C>T (p.Ala485=)
NM_014874.4(MFN2):c.145T>G (p.Tyr49Asp) rs2100802936
NM_014874.4(MFN2):c.1464C>T (p.Asn488=) rs1459334754
NM_014874.4(MFN2):c.1468C>T (p.Leu490=) rs1569862709
NM_014874.4(MFN2):c.1470G>A (p.Leu490=)
NM_014874.4(MFN2):c.1476C>T (p.Thr492=) rs143428548
NM_014874.4(MFN2):c.1487A>G (p.Asp496Gly) rs1569862824
NM_014874.4(MFN2):c.1488C>T (p.Asp496=)
NM_014874.4(MFN2):c.1489A>G (p.Met497Val) rs2100850292
NM_014874.4(MFN2):c.1493T>C (p.Ile498Thr)
NM_014874.4(MFN2):c.1495+10del rs754692803
NM_014874.4(MFN2):c.1495+13G>A
NM_014874.4(MFN2):c.1495+15_1495+16del rs2100850386
NM_014874.4(MFN2):c.1495+3_1495+6dup rs2100850333
NM_014874.4(MFN2):c.1495+8C>A rs775224412
NM_014874.4(MFN2):c.1496-18C>T
NM_014874.4(MFN2):c.1496-2A>G
NM_014874.4(MFN2):c.1496-8C>G rs1639377731
NM_014874.4(MFN2):c.1496A>T (p.Asp499Val)
NM_014874.4(MFN2):c.1498G>A (p.Gly500Ser) rs1639378150
NM_014874.4(MFN2):c.1502T>C (p.Leu501Ser)
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro) rs1553145023
NM_014874.4(MFN2):c.1516C>T (p.Pro506Ser)
NM_014874.4(MFN2):c.1523C>G (p.Ser508Cys)
NM_014874.4(MFN2):c.1525G>A (p.Val509Met)
NM_014874.4(MFN2):c.1525G>T (p.Val509Leu) rs945014959
NM_014874.4(MFN2):c.1535A>G (p.Gln512Arg) rs2100852773
NM_014874.4(MFN2):c.1538_1541del (p.Ile513fs) rs2100852782
NM_014874.4(MFN2):c.153G>T (p.Gln51His) rs886045219
NM_014874.4(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
NM_014874.4(MFN2):c.1551C>T (p.Val517=)
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.4(MFN2):c.1556G>C (p.Arg519Pro) rs373809750
NM_014874.4(MFN2):c.1570C>T (p.Leu524Phe) rs866494871
NM_014874.4(MFN2):c.1573A>G (p.Asn525Asp)
NM_014874.4(MFN2):c.1582C>T (p.Leu528=)
NM_014874.4(MFN2):c.1588T>C (p.Cys530Arg)
NM_014874.4(MFN2):c.1590_1591del (p.Cys530_Asp531delinsTer) rs2100853005
NM_014874.4(MFN2):c.1598T>C (p.Leu533Pro)
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg) rs61733200
NM_014874.4(MFN2):c.1601G>A (p.Cys534Tyr)
NM_014874.4(MFN2):c.1606del (p.Asp536fs) rs2100853065
NM_014874.4(MFN2):c.1612C>G (p.Gln538Glu)
NM_014874.4(MFN2):c.1612del (p.Gln538fs) rs1569865516
NM_014874.4(MFN2):c.1615G>A (p.Glu539Lys)
NM_014874.4(MFN2):c.161C>T (p.Ala54Val)
NM_014874.4(MFN2):c.1621A>G (p.Ile541Val) rs1639383535
NM_014874.4(MFN2):c.1625A>C (p.Glu542Ala)
NM_014874.4(MFN2):c.1629C>G (p.Phe543Leu) rs2100853178
NM_014874.4(MFN2):c.1631A>G (p.His544Arg) rs1639384043
NM_014874.4(MFN2):c.168C>T (p.Phe56=)
NM_014874.4(MFN2):c.1717-8C>G
NM_014874.4(MFN2):c.1717-9_1717-6del rs746359726
NM_014874.4(MFN2):c.1717G>A (p.Val573Ile)
NM_014874.4(MFN2):c.1717G>C (p.Val573Leu)
NM_014874.4(MFN2):c.171T>C (p.Leu57=) rs1443899568
NM_014874.4(MFN2):c.1723C>T (p.Arg575Cys) rs786204244
NM_014874.4(MFN2):c.1727C>T (p.Pro576Leu)
NM_014874.4(MFN2):c.1739C>T (p.Thr580Met)
NM_014874.4(MFN2):c.175+13C>T
NM_014874.4(MFN2):c.175+5G>A
NM_014874.4(MFN2):c.175+6G>T rs762489839
NM_014874.4(MFN2):c.175+8G>T
NM_014874.4(MFN2):c.1753A>C (p.Ser585Arg)
NM_014874.4(MFN2):c.1755C>G (p.Ser585Arg) rs1335576013
NM_014874.4(MFN2):c.1758G>A (p.Met586Ile)
NM_014874.4(MFN2):c.1759C>A (p.Pro587Thr) rs771675874
NM_014874.4(MFN2):c.176-14A>G
NM_014874.4(MFN2):c.176-15A>G rs2100812418
NM_014874.4(MFN2):c.176-16C>T
NM_014874.4(MFN2):c.176-19T>G
NM_014874.4(MFN2):c.176-3C>T rs975369655
NM_014874.4(MFN2):c.176-4C>G rs546254672
NM_014874.4(MFN2):c.176-8A>C rs1189123888
NM_014874.4(MFN2):c.1763C>T (p.Pro588Leu) rs1639428648
NM_014874.4(MFN2):c.1771C>T (p.Gln591Ter)
NM_014874.4(MFN2):c.1772_1773del (p.Gln591fs) rs1569868729
NM_014874.4(MFN2):c.1775G>A (p.Gly592Asp)
NM_014874.4(MFN2):c.1777T>A (p.Ser593Thr) rs1639429397
NM_014874.4(MFN2):c.1780C>A (p.Leu594Ile) rs1280803045
NM_014874.4(MFN2):c.1782C>A (p.Leu594=) rs950932066
NM_014874.4(MFN2):c.1789G>T (p.Glu597Ter) rs2100856157
NM_014874.4(MFN2):c.1807A>G (p.Met603Val)
NM_014874.4(MFN2):c.180G>A (p.Thr60=)
NM_014874.4(MFN2):c.1810G>A (p.Val604Ile) rs1553145384
NM_014874.4(MFN2):c.1817del (p.Gly606fs)
NM_014874.4(MFN2):c.1819C>T (p.Leu607=)
NM_014874.4(MFN2):c.1822_1826dup (p.Leu610fs)
NM_014874.4(MFN2):c.1823C>T (p.Ala608Val) rs1060501924
NM_014874.4(MFN2):c.1830G>A (p.Leu610=)
NM_014874.4(MFN2):c.1833A>T (p.Thr611=) rs2100856355
NM_014874.4(MFN2):c.1834T>A (p.Ser612Thr) rs2100856360
NM_014874.4(MFN2):c.1835C>A (p.Ser612Tyr) rs755299545
NM_014874.4(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_014874.4(MFN2):c.183C>T (p.Tyr61=) rs1638734576
NM_014874.4(MFN2):c.1846A>G (p.Met616Val) rs753132224
NM_014874.4(MFN2):c.1846A>T (p.Met616Leu) rs753132224
NM_014874.4(MFN2):c.1847T>C (p.Met616Thr)
NM_014874.4(MFN2):c.1854del (p.Val620fs)
NM_014874.4(MFN2):c.1856TTG[2] (p.Val621del)
NM_014874.4(MFN2):c.1858G>C (p.Val620Leu)
NM_014874.4(MFN2):c.1859T>C (p.Val620Ala)
NM_014874.4(MFN2):c.1861G>A (p.Val621Ile) rs1639433425
NM_014874.4(MFN2):c.1862T>C (p.Val621Ala)
NM_014874.4(MFN2):c.1872+13T>G
NM_014874.4(MFN2):c.1872+5G>A
NM_014874.4(MFN2):c.1873-13A>C
NM_014874.4(MFN2):c.1873-19C>T
NM_014874.4(MFN2):c.1879A>G (p.Lys627Glu) rs1163976600
NM_014874.4(MFN2):c.1884A>G (p.Ala628=) rs2100857953
NM_014874.4(MFN2):c.1892G>A (p.Trp631Ter)
NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp) rs772701127
NM_014874.4(MFN2):c.1895G>A (p.Arg632Gln)
NM_014874.4(MFN2):c.189T>C (p.Asn63=) rs2100812512
NM_014874.4(MFN2):c.1909T>G (p.Ser637Ala)
NM_014874.4(MFN2):c.1910C>T (p.Ser637Phe) rs1569870801
NM_014874.4(MFN2):c.1915G>C (p.Gly639Arg) rs2100858120
NM_014874.4(MFN2):c.1918C>A (p.Leu640Ile)
NM_014874.4(MFN2):c.1918C>T (p.Leu640Phe) rs764683093
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1920C>T (p.Leu640=)
NM_014874.4(MFN2):c.1921T>C (p.Tyr641His) rs1569870930
NM_014874.4(MFN2):c.1921T>G (p.Tyr641Asp) rs1569870930
NM_014874.4(MFN2):c.1927CTC[1] (p.Leu644del) rs2100858186
NM_014874.4(MFN2):c.1932C>T (p.Leu644=)
NM_014874.4(MFN2):c.1935C>T (p.Tyr645=)
NM_014874.4(MFN2):c.1936G>A (p.Val646Ile) rs754683866
NM_014874.4(MFN2):c.1936G>C (p.Val646Leu) rs754683866
NM_014874.4(MFN2):c.1938C>A (p.Val646=) rs1040702840
NM_014874.4(MFN2):c.1938C>T (p.Val646=) rs1040702840
NM_014874.4(MFN2):c.193G>T (p.Glu65Ter) rs1415276772
NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_014874.4(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_014874.4(MFN2):c.1952C>G (p.Thr651Ser) rs746502519
NM_014874.4(MFN2):c.195A>C (p.Glu65Asp) rs1297357606
NM_014874.4(MFN2):c.1963A>G (p.Lys655Glu) rs1639459062
NM_014874.4(MFN2):c.1966G>A (p.Ala656Thr)
NM_014874.4(MFN2):c.1968C>G (p.Ala656=) rs763381681
NM_014874.4(MFN2):c.1974G>C (p.Glu658Asp) rs2100858415
NM_014874.4(MFN2):c.1975A>G (p.Arg659Gly)
NM_014874.4(MFN2):c.1979C>T (p.Ala660Val) rs377090439
NM_014874.4(MFN2):c.1980C>T (p.Ala660=) rs2100858469
NM_014874.4(MFN2):c.1984A>G (p.Lys662Glu) rs1569871448
NM_014874.4(MFN2):c.1988G>A (p.Arg663His) rs766735605
NM_014874.4(MFN2):c.1988G>C (p.Arg663Pro) rs766735605
NM_014874.4(MFN2):c.1989C>G (p.Arg663=)
NM_014874.4(MFN2):c.1994T>C (p.Phe665Ser) rs1569871530
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter) rs1557515779
NM_014874.4(MFN2):c.2001G>A (p.Glu667=)
NM_014874.4(MFN2):c.2003A>G (p.His668Arg) rs747947098
NM_014874.4(MFN2):c.2016G>C (p.Lys672Asn)
NM_014874.4(MFN2):c.2017C>A (p.Leu673Met) rs2100858641
NM_014874.4(MFN2):c.2018T>C (p.Leu673Pro) rs1569871653
NM_014874.4(MFN2):c.201C>T (p.Asp67=) rs1553141644
NM_014874.4(MFN2):c.2028C>T (p.Val676=) rs780836559
NM_014874.4(MFN2):c.2031C>T (p.Ile677=)
NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter) rs1569871830
NM_014874.4(MFN2):c.2042G>C (p.Gly681Ala)
NM_014874.4(MFN2):c.2047A>C (p.Asn683His) rs1569871862
NM_014874.4(MFN2):c.2054_2069+1171del
NM_014874.4(MFN2):c.2055CCA[1] (p.His686del)
NM_014874.4(MFN2):c.2058C>T (p.His686=) rs1040857073
NM_014874.4(MFN2):c.205G>T (p.Val69Phe) rs28940296
NM_014874.4(MFN2):c.2068C>G (p.Gln690Glu) rs1218249174
NM_014874.4(MFN2):c.2069+13G>C rs766629075
NM_014874.4(MFN2):c.2069+15C>G rs375924621
NM_014874.4(MFN2):c.2069+18A>G rs551549595
NM_014874.4(MFN2):c.2069+20C>A
NM_014874.4(MFN2):c.2069+4A>G rs2100858892
NM_014874.4(MFN2):c.2070-11C>T rs759614417
NM_014874.4(MFN2):c.2070-14T>C
NM_014874.4(MFN2):c.2070-16T>C
NM_014874.4(MFN2):c.2070-16TC[5]
NM_014874.4(MFN2):c.2070-6C>A rs752898934
NM_014874.4(MFN2):c.2070-7_2070-5del
NM_014874.4(MFN2):c.2070-8C>G
NM_014874.4(MFN2):c.2070-8C>T rs1321940926
NM_014874.4(MFN2):c.207T>C (p.Val69=)
NM_014874.4(MFN2):c.2092del (p.His698fs) rs1569882539
NM_014874.4(MFN2):c.2093A>G (p.His698Arg) rs1060501916
NM_014874.4(MFN2):c.2093A>T (p.His698Leu) rs1060501916
NM_014874.4(MFN2):c.2096T>C (p.Leu699Pro)
NM_014874.4(MFN2):c.2096_2101del (p.Leu699_Cys700del) rs2100868068
NM_014874.4(MFN2):c.20G>T (p.Arg7Leu)
NM_014874.4(MFN2):c.2108T>C (p.Val703Ala) rs879253944
NM_014874.4(MFN2):c.210C>T (p.Thr70=)
NM_014874.4(MFN2):c.2116A>C (p.Thr706Pro) rs1569882675
NM_014874.4(MFN2):c.2118C>G (p.Thr706=) rs1281194317
NM_014874.4(MFN2):c.211A>G (p.Thr71Ala) rs548809273
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
NM_014874.4(MFN2):c.2120G>C (p.Arg707Pro) rs375937289
NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del) rs1639600409
NM_014874.4(MFN2):c.2123A>G (p.Glu708Gly) rs1557537210
NM_014874.4(MFN2):c.2125_2133del (p.Asn709_Glu711del)
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223
NM_014874.4(MFN2):c.2133G>T (p.Glu711Asp) rs1486405515
NM_014874.4(MFN2):c.2140A>G (p.Ile714Val) rs779574187
NM_014874.4(MFN2):c.2146G>C (p.Ala716Pro) rs144860227
NM_014874.4(MFN2):c.2146G>T (p.Ala716Ser) rs144860227
NM_014874.4(MFN2):c.214dup (p.Glu72fs)
NM_014874.4(MFN2):c.2151G>A (p.Met717Ile) rs1639602553
NM_014874.4(MFN2):c.2156A>G (p.Lys719Arg) rs2100868327
NM_014874.4(MFN2):c.2159A>T (p.Lys720Ile) rs2100868363
NM_014874.4(MFN2):c.2170C>A (p.Leu724Ile)
NM_014874.4(MFN2):c.2170C>G (p.Leu724Val)
NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro) rs1557537346
NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg) rs1557537346
NM_014874.4(MFN2):c.2177C>G (p.Ser726Ter) rs1317009723
NM_014874.4(MFN2):c.2186G>C (p.Ser729Thr)
NM_014874.4(MFN2):c.2187C>A (p.Ser729Arg)
NM_014874.4(MFN2):c.2189A>G (p.Lys730Arg) rs1373071856
NM_014874.4(MFN2):c.2190A>T (p.Lys730Asn) rs1569883217
NM_014874.4(MFN2):c.2195A>G (p.Lys732Arg)
NM_014874.4(MFN2):c.2200C>G (p.Leu734Val) rs900143738
NM_014874.4(MFN2):c.2202C>G (p.Leu734=)
NM_014874.4(MFN2):c.2204+19G>C
NM_014874.4(MFN2):c.2205-15A>T rs2100874408
NM_014874.4(MFN2):c.2205-4G>A
NM_014874.4(MFN2):c.2205G>A (p.Arg735=) rs757975290
NM_014874.4(MFN2):c.2211A>G (p.Lys737=) rs1639694970
NM_014874.4(MFN2):c.2212G>A (p.Ala738Thr) rs1553146551
NM_014874.4(MFN2):c.2213C>T (p.Ala738Val) rs1569889919
NM_014874.4(MFN2):c.2214C>T (p.Ala738=) rs781669282
NM_014874.4(MFN2):c.2218T>A (p.Trp740Arg) rs1557539004
NM_014874.4(MFN2):c.2218T>C (p.Trp740Arg) rs1557539004
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.2219G>T (p.Trp740Leu)
NM_014874.4(MFN2):c.221A>G (p.Gln74Arg) rs1569815882
NM_014874.4(MFN2):c.2220G>C (p.Trp740Cys) rs1060501925
NM_014874.4(MFN2):c.2220G>T (p.Trp740Cys) rs1060501925
NM_014874.4(MFN2):c.2222T>G (p.Leu741Trp) rs1553146559
NM_014874.4(MFN2):c.2224G>C (p.Asp742His)
NM_014874.4(MFN2):c.2227A>G (p.Ser743Gly) rs1553146561
NM_014874.4(MFN2):c.2228G>A (p.Ser743Asn) rs1639696930
NM_014874.4(MFN2):c.2229T>A (p.Ser743Arg) rs1569890121
NM_014874.4(MFN2):c.2229T>G (p.Ser743Arg) rs1569890121
NM_014874.4(MFN2):c.2230G>A (p.Glu744Lys) rs1064794571
NM_014874.4(MFN2):c.2230_2231delinsAT (p.Glu744Met) rs1569890153
NM_014874.4(MFN2):c.2231A>G (p.Glu744Gly) rs1131691782
NM_014874.4(MFN2):c.2232G>A (p.Glu744=) rs756693072
NM_014874.4(MFN2):c.2232G>C (p.Glu744Asp) rs756693072
NM_014874.4(MFN2):c.2232G>T (p.Glu744Asp) rs756693072
NM_014874.4(MFN2):c.2234T>C (p.Leu745Pro) rs1553146569
NM_014874.4(MFN2):c.2234T>G (p.Leu745Arg) rs1553146569
NM_014874.4(MFN2):c.2239A>T (p.Met747Leu) rs1259403735
NM_014874.4(MFN2):c.223G>A (p.Val75Ile)
NM_014874.4(MFN2):c.2240T>C (p.Met747Thr) rs879254059
NM_014874.4(MFN2):c.2240T>G (p.Met747Arg) rs879254059
NM_014874.4(MFN2):c.2243T>G (p.Phe748Cys) rs2100874709
NM_014874.4(MFN2):c.2249A>C (p.His750Pro) rs1569890311
NM_014874.4(MFN2):c.2249A>G (p.His750Arg)
NM_014874.4(MFN2):c.2249_2250del (p.His750fs)
NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter) rs1557539119
NM_014874.4(MFN2):c.2254T>A (p.Tyr752Asn)
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_014874.4(MFN2):c.2256C>G (p.Tyr752Ter) rs863224968
NM_014874.4(MFN2):c.2256C>T (p.Tyr752=)
NM_014874.4(MFN2):c.2258T>C (p.Leu753Pro) rs1639699426
NM_014874.4(MFN2):c.2260C>T (p.Gln754Ter) rs868571112
NM_014874.4(MFN2):c.2269A>C (p.Arg757=) rs1639700136
NM_014874.4(MFN2):c.2270G>C (p.Arg757Thr)
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.4(MFN2):c.22T>C (p.Cys8Arg) rs1342700068
NM_014874.4(MFN2):c.239G>C (p.Gly80Ala) rs139827903
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014874.4(MFN2):c.244C>T (p.Leu82=)
NM_014874.4(MFN2):c.245del (p.Leu82fs) rs2100812695
NM_014874.4(MFN2):c.248C>G (p.Ser83Cys) rs372451582
NM_014874.4(MFN2):c.24C>G (p.Cys8Trp)
NM_014874.4(MFN2):c.250A>G (p.Lys84Glu) rs1569816088
NM_014874.4(MFN2):c.254_256dup (p.Val85_Arg86insMet) rs1638738352
NM_014874.4(MFN2):c.262A>C (p.Ile88Leu) rs1569816194
NM_014874.4(MFN2):c.262A>G (p.Ile88Val) rs1569816194
NM_014874.4(MFN2):c.262A>T (p.Ile88Phe) rs1569816194
NM_014874.4(MFN2):c.263T>C (p.Ile88Thr) rs1638739035
NM_014874.4(MFN2):c.264C>G (p.Ile88Met) rs1553141680
NM_014874.4(MFN2):c.264C>T (p.Ile88=) rs1553141680
NM_014874.4(MFN2):c.271G>A (p.Val91Met) rs1557519001
NM_014874.4(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_014874.4(MFN2):c.271_274del (p.Val91fs)
NM_014874.4(MFN2):c.272T>G (p.Val91Gly) rs1569816262
NM_014874.4(MFN2):c.273G>A (p.Val91=)
NM_014874.4(MFN2):c.273G>T (p.Val91=)
NM_014874.4(MFN2):c.275T>C (p.Leu92Pro) rs1569816285
NM_014874.4(MFN2):c.275T>G (p.Leu92Arg) rs1569816285
NM_014874.4(MFN2):c.279T>C (p.Ala93=)
NM_014874.4(MFN2):c.280C>G (p.Arg94Gly) rs119103263
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.281G>C (p.Arg94Pro) rs28940291
NM_014874.4(MFN2):c.281G>T (p.Arg94Leu)
NM_014874.4(MFN2):c.283A>C (p.Arg95=) rs1060501920
NM_014874.4(MFN2):c.283A>G (p.Arg95Gly) rs1060501920
NM_014874.4(MFN2):c.283_285del (p.Arg95del) rs1638740322
NM_014874.4(MFN2):c.284G>A (p.Arg95Lys) rs1638740596
NM_014874.4(MFN2):c.285G>C (p.Arg95Ser) rs1553141686
NM_014874.4(MFN2):c.285G>T (p.Arg95Ser) rs1553141686
NM_014874.4(MFN2):c.286C>A (p.His96Asn) rs1569816382
NM_014874.4(MFN2):c.288C>A (p.His96Gln) rs779756767
NM_014874.4(MFN2):c.288C>G (p.His96Gln)
NM_014874.4(MFN2):c.288C>T (p.His96=) rs779756767
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.4(MFN2):c.298G>T (p.Ala100Ser) rs1569816496
NM_014874.4(MFN2):c.299C>G (p.Ala100Gly) rs1553141707
NM_014874.4(MFN2):c.29C>G (p.Ser10Cys) rs757982521
NM_014874.4(MFN2):c.306dup (p.Gly103fs) rs777012596
NM_014874.4(MFN2):c.307G>A (p.Gly103Ser)
NM_014874.4(MFN2):c.30dup (p.Ile11fs) rs1569802246
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.311+14_311+15delinsTT rs2100813069
NM_014874.4(MFN2):c.311+1G>T rs1569816606
NM_014874.4(MFN2):c.311+7C>G
NM_014874.4(MFN2):c.311+7C>T
NM_014874.4(MFN2):c.311G>A (p.Arg104Gln) rs863224068
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.4(MFN2):c.312-10T>C
NM_014874.4(MFN2):c.312-16_314del rs2100822209
NM_014874.4(MFN2):c.312-18G>A
NM_014874.4(MFN2):c.312-3T>A
NM_014874.4(MFN2):c.313A>G (p.Thr105Ala) rs1553142428
NM_014874.4(MFN2):c.314C>G (p.Thr105Arg) rs863224069
NM_014874.4(MFN2):c.314C>T (p.Thr105Met) rs863224069
NM_014874.4(MFN2):c.317G>A (p.Ser106Asn)
NM_014874.4(MFN2):c.318C>G (p.Ser106Arg) rs778937659
NM_014874.4(MFN2):c.318C>T (p.Ser106=) rs778937659
NM_014874.4(MFN2):c.319A>G (p.Asn107Asp) rs1569829556
NM_014874.4(MFN2):c.321T>G (p.Asn107Lys) rs1638897505
NM_014874.4(MFN2):c.322G>A (p.Gly108Arg) rs1569829573
NM_014874.4(MFN2):c.326A>G (p.Lys109Arg) rs1553142436
NM_014874.4(MFN2):c.327G>A (p.Lys109=)
NM_014874.4(MFN2):c.332C>T (p.Thr111Ile) rs1638898105
NM_014874.4(MFN2):c.333C>T (p.Thr111=)
NM_014874.4(MFN2):c.341A>G (p.Asn114Ser)
NM_014874.4(MFN2):c.347T>C (p.Met116Thr) rs1569829691
NM_014874.4(MFN2):c.349C>G (p.Leu117Val)
NM_014874.4(MFN2):c.351C>T (p.Leu117=) rs1468573342
NM_014874.4(MFN2):c.357C>T (p.Asp119=)
NM_014874.4(MFN2):c.358A>G (p.Lys120Glu)
NM_014874.4(MFN2):c.361del (p.Val121fs)
NM_014874.4(MFN2):c.366G>A (p.Leu122=) rs2100822411
NM_014874.4(MFN2):c.368C>T (p.Pro123Leu) rs1569829761
NM_014874.4(MFN2):c.369C>G (p.Pro123=) rs1393819397
NM_014874.4(MFN2):c.373G>A (p.Gly125Arg) rs1569829787
NM_014874.4(MFN2):c.374G>A (p.Gly125Glu) rs1638900244
NM_014874.4(MFN2):c.377T>G (p.Ile126Ser) rs1334228742
NM_014874.4(MFN2):c.379G>C (p.Gly127Arg)
NM_014874.4(MFN2):c.380G>A (p.Gly127Asp) rs1569829855
NM_014874.4(MFN2):c.380G>T (p.Gly127Val) rs1569829855
NM_014874.4(MFN2):c.382C>A (p.His128Asn) rs2100822486
NM_014874.4(MFN2):c.382C>T (p.His128Tyr) rs2100822486
NM_014874.4(MFN2):c.383A>C (p.His128Pro) rs1569829894
NM_014874.4(MFN2):c.383A>G (p.His128Arg) rs1569829894
NM_014874.4(MFN2):c.384C>G (p.His128Gln) rs770767909
NM_014874.4(MFN2):c.386C>T (p.Thr129Ile) rs1060501919
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.4(MFN2):c.393T>C (p.Asn131=)
NM_014874.4(MFN2):c.395G>T (p.Cys132Phe)
NM_014874.4(MFN2):c.399C>T (p.Phe133=)
NM_014874.4(MFN2):c.401T>A (p.Leu134Gln) rs2100822581
NM_014874.4(MFN2):c.404G>T (p.Arg135Leu)
NM_014874.4(MFN2):c.406G>T (p.Val136Leu)
NM_014874.4(MFN2):c.406dup (p.Val136fs) rs759844257
NM_014874.4(MFN2):c.408= (p.Val136=)
NM_014874.4(MFN2):c.411G>C (p.Glu137Asp) rs2100822641
NM_014874.4(MFN2):c.423C>G (p.Gly141=)
NM_014874.4(MFN2):c.430G>A (p.Ala144Thr) rs1569830238
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.452C>T (p.Ser151Leu) rs2100822731
NM_014874.4(MFN2):c.462G>A (p.Lys154=) rs1255624199
NM_014874.4(MFN2):c.462GAG[1] (p.Arg155del)
NM_014874.4(MFN2):c.462_463delinsTT (p.Lys154_Arg155delinsAsnTrp) rs2100822768
NM_014874.4(MFN2):c.463A>G (p.Arg155Gly)
NM_014874.4(MFN2):c.466A>G (p.Ser156Gly) rs1638905291
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.4(MFN2):c.469G>A (p.Ala157Thr)
NM_014874.4(MFN2):c.469_470delinsTT (p.Ala157Phe)
NM_014874.4(MFN2):c.472A>C (p.Lys158Gln) rs1569830408
NM_014874.4(MFN2):c.475-12C>T
NM_014874.4(MFN2):c.475-1G>C rs1569834500
NM_014874.4(MFN2):c.475-1G>T rs1569834500
NM_014874.4(MFN2):c.475-2A>G rs1557522794
NM_014874.4(MFN2):c.475-4T>A
NM_014874.4(MFN2):c.475-5A>G
NM_014874.4(MFN2):c.475-5_475-2dup
NM_014874.4(MFN2):c.475-7_478del rs2100825988
NM_014874.4(MFN2):c.475A>C (p.Thr159Pro)
NM_014874.4(MFN2):c.479T>C (p.Val160Ala) rs879253861
NM_014874.4(MFN2):c.479T>G (p.Val160Gly) rs879253861
NM_014874.4(MFN2):c.479_480del (p.Val160fs) rs763007983
NM_014874.4(MFN2):c.486G>C (p.Gln162His)
NM_014874.4(MFN2):c.486_494del (p.Gln162_Ala164del)
NM_014874.4(MFN2):c.488T>C (p.Leu163Pro) rs2100826124
NM_014874.4(MFN2):c.491C>T (p.Ala164Val) rs1553142699
NM_014874.4(MFN2):c.493C>G (p.His165Asp) rs119103262
NM_014874.4(MFN2):c.493C>T (p.His165Tyr) rs119103262
NM_014874.4(MFN2):c.494A>C (p.His165Pro) rs863224970
NM_014874.4(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.4(MFN2):c.494A>T (p.His165Leu) 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.496G>A (p.Ala166Thr) rs1569834732
NM_014874.4(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.4(MFN2):c.500T>C (p.Leu167Pro) rs1569834760
NM_014874.4(MFN2):c.504C>T (p.His168=) rs2100826193
NM_014874.4(MFN2):c.505C>T (p.Gln169Ter)
NM_014874.4(MFN2):c.508G>T (p.Asp170Tyr)
NM_014874.4(MFN2):c.510C>T (p.Asp170=) rs2100826208
NM_014874.4(MFN2):c.515A>G (p.Gln172Arg) rs1638957491
NM_014874.4(MFN2):c.518T>C (p.Leu173Pro) rs2100826229
NM_014874.4(MFN2):c.524C>T (p.Ala175Val)
NM_014874.4(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.4(MFN2):c.548G>T (p.Trp183Leu) rs2100826348
NM_014874.4(MFN2):c.550C>G (p.Pro184Ala) rs1638959309
NM_014874.4(MFN2):c.552C>T (p.Pro184=) rs2100826374
NM_014874.4(MFN2):c.555C>T (p.Asn185=) rs755790687
NM_014874.4(MFN2):c.555del (p.Ser186fs)
NM_014874.4(MFN2):c.564C>T (p.Cys188=) rs536007087
NM_014874.4(MFN2):c.569T>C (p.Leu190Pro) rs1553142726
NM_014874.4(MFN2):c.572T>C (p.Leu191Pro) rs879254288
NM_014874.4(MFN2):c.57A>T (p.Arg19Ser)
NM_014874.4(MFN2):c.592A>C (p.Met198Leu)
NM_014874.4(MFN2):c.592A>T (p.Met198Leu) rs1569835123
NM_014874.4(MFN2):c.597C>G (p.Asp199Glu) rs1205882839
NM_014874.4(MFN2):c.599+19C>T
NM_014874.4(MFN2):c.599+9G>A
NM_014874.4(MFN2):c.600-11G>C
NM_014874.4(MFN2):c.600-13_600-12del
NM_014874.4(MFN2):c.600-14C>T
NM_014874.4(MFN2):c.600-31T>G
NM_014874.4(MFN2):c.600-8_600-7dup rs761842762
NM_014874.4(MFN2):c.601C>T (p.Pro201Ser) rs1639041254
NM_014874.4(MFN2):c.604G>A (p.Gly202Ser)
NM_014874.4(MFN2):c.605G>C (p.Gly202Ala) rs1569842143
NM_014874.4(MFN2):c.609T>G (p.Ile203Met) rs1569842208
NM_014874.4(MFN2):c.612T>A (p.Asp204Glu) rs1569842258
NM_014874.4(MFN2):c.614T>C (p.Val205Ala) rs1639042915
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) rs1569842296
NM_014874.4(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_014874.4(MFN2):c.618C>T (p.Thr206=)
NM_014874.4(MFN2):c.61A>G (p.Met21Val) rs1569802518
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp) rs1162977959
NM_014874.4(MFN2):c.626T>G (p.Leu209Arg) rs1639043428
NM_014874.4(MFN2):c.628G>C (p.Asp210His) rs1064794315
NM_014874.4(MFN2):c.629A>G (p.Asp210Gly) rs1639043704
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn) rs1557524703
NM_014874.4(MFN2):c.638T>C (p.Ile213Thr) rs1557524703
NM_014874.4(MFN2):c.640G>A (p.Asp214Asn) rs1569842382
NM_014874.4(MFN2):c.64G>T (p.Ala22Ser) rs1178355950
NM_014874.4(MFN2):c.650G>T (p.Cys217Phe) rs1569842458
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.657T>G (p.Asp219Glu) rs878854989
NM_014874.4(MFN2):c.658G>A (p.Ala220Thr) rs1639045345
NM_014874.4(MFN2):c.661G>A (p.Asp221Asn) rs1569842525
NM_014874.4(MFN2):c.661G>C (p.Asp221His) rs1569842525
NM_014874.4(MFN2):c.666G>A (p.Val222=) rs911933291
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.66T>C (p.Ala22=)
NM_014874.4(MFN2):c.674_680del (p.Leu225fs) rs1060501915
NM_014874.4(MFN2):c.676G>A (p.Val226Met) rs1569842610
NM_014874.4(MFN2):c.677_688del (p.Val226_Ser229del) rs1569842627
NM_014874.4(MFN2):c.688G>A (p.Glu230Lys) rs2100831900
NM_014874.4(MFN2):c.690G>C (p.Glu230Asp) rs1569842685
NM_014874.4(MFN2):c.690G>T (p.Glu230Asp) rs1569842685
NM_014874.4(MFN2):c.691T>C (p.Ser231Pro)
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.694A>G (p.Thr232Ala) 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.697C>G (p.Leu233Val) rs1569842803
NM_014874.4(MFN2):c.700A>C (p.Met234Leu) rs2100831955
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.703C>G (p.Gln235Glu) rs879254210
NM_014874.4(MFN2):c.703C>T (p.Gln235Ter) rs879254210
NM_014874.4(MFN2):c.705G>C (p.Gln235His)
NM_014874.4(MFN2):c.705G>T (p.Gln235His)
NM_014874.4(MFN2):c.708+10C>T rs1639049020
NM_014874.4(MFN2):c.708+1G>A rs1639048523
NM_014874.4(MFN2):c.708+5CTC[2] rs863224842
NM_014874.4(MFN2):c.708G>A (p.Thr236=) rs1557524867
NM_014874.4(MFN2):c.709-19G>A
NM_014874.4(MFN2):c.711A>C (p.Glu237Asp)
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.718T>A (p.Phe240Ile) rs1557525005
NM_014874.4(MFN2):c.718T>C (p.Phe240Leu) rs1557525005
NM_014874.4(MFN2):c.718T>G (p.Phe240Val) rs1557525005
NM_014874.4(MFN2):c.720C>A (p.Phe240Leu) rs864622480
NM_014874.4(MFN2):c.720C>G (p.Phe240Leu) rs864622480
NM_014874.4(MFN2):c.721T>C (p.Phe241Leu)
NM_014874.4(MFN2):c.724C>T (p.His242Tyr)
NM_014874.4(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.4(MFN2):c.730G>T (p.Val244Leu) rs879253777
NM_014874.4(MFN2):c.731T>C (p.Val244Ala) rs1060501921
NM_014874.4(MFN2):c.731T>G (p.Val244Gly) rs1060501921
NM_014874.4(MFN2):c.738G>C (p.Glu246Asp) rs2100832455
NM_014874.4(MFN2):c.742C>G (p.Leu248Val) rs1569843694
NM_014874.4(MFN2):c.744C>G (p.Leu248=) rs61733205
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.747C>T (p.Ser249=)
NM_014874.4(MFN2):c.748del (p.Arg250fs)
NM_014874.4(MFN2):c.750G>A (p.Arg250=) rs1639056984
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.4(MFN2):c.751C>T (p.Pro251Ser) rs28940295
NM_014874.4(MFN2):c.752C>G (p.Pro251Arg) rs1557525153
NM_014874.4(MFN2):c.752C>T (p.Pro251Leu) rs1557525153
NM_014874.4(MFN2):c.756C>A (p.Asn252Lys) rs137960129
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe) rs1639057845
NM_014874.4(MFN2):c.764T>C (p.Ile255Thr)
NM_014874.4(MFN2):c.768G>A (p.Leu256=) rs2100832631
NM_014874.4(MFN2):c.773A>G (p.Asn258Ser) rs1639058625
NM_014874.4(MFN2):c.775C>A (p.Arg259Ser)
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.4(MFN2):c.776G>T (p.Arg259Leu) rs755065651
NM_014874.4(MFN2):c.779G>A (p.Trp260Ter)
NM_014874.4(MFN2):c.781G>C (p.Asp261His) rs2100832682
NM_014874.4(MFN2):c.787T>C (p.Ser263Pro) rs1283917064
NM_014874.4(MFN2):c.790_791delinsTT (p.Ala264Phe) rs2100832738
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys) rs1569844113
NM_014874.4(MFN2):c.796G>C (p.Glu266Gln) rs1569844113
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys) rs1453267972
NM_014874.4(MFN2):c.808A>C (p.Met270Leu) rs748318825
NM_014874.4(MFN2):c.808A>T (p.Met270Leu) rs748318825
NM_014874.4(MFN2):c.813G>C (p.Glu271Asp)
NM_014874.4(MFN2):c.814G>A (p.Glu272Lys) rs1639061149
NM_014874.4(MFN2):c.816+16T>C
NM_014874.4(MFN2):c.816+18G>A rs2100832894
NM_014874.4(MFN2):c.816+5G>A
NM_014874.4(MFN2):c.816+9T>G
NM_014874.4(MFN2):c.817-14T>G
NM_014874.4(MFN2):c.817-18C>T
NM_014874.4(MFN2):c.817-19A>G
NM_014874.4(MFN2):c.817G>A (p.Val273Met) rs1639165942
NM_014874.4(MFN2):c.817G>T (p.Val273Leu)
NM_014874.4(MFN2):c.818T>A (p.Val273Glu) rs1458700065
NM_014874.4(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.4(MFN2):c.821GGC[3] (p.Arg275_Gln276insArg)
NM_014874.4(MFN2):c.824G>C (p.Arg275Pro)
NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup) rs1553143791
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_014874.4(MFN2):c.828G>C (p.Gln276His) rs1569851570
NM_014874.4(MFN2):c.828G>T (p.Gln276His) rs1569851570
NM_014874.4(MFN2):c.829C>T (p.His277Tyr) rs1569851586
NM_014874.4(MFN2):c.830A>G (p.His277Arg) rs1064794316
NM_014874.4(MFN2):c.832A>G (p.Met278Val)
NM_014874.4(MFN2):c.834G>A (p.Met278Ile) rs1639167341
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro) rs28940294
NM_014874.4(MFN2):c.851T>A (p.Phe284Tyr) rs1569851731
NM_014874.4(MFN2):c.857T>G (p.Val286Gly)
NM_014874.4(MFN2):c.861T>C (p.Asp287=)
NM_014874.4(MFN2):c.864G>A (p.Glu288=) rs1569851796
NM_014874.4(MFN2):c.864G>C (p.Glu288Asp) rs1569851796
NM_014874.4(MFN2):c.866T>C (p.Leu289Pro)
NM_014874.4(MFN2):c.879T>C (p.Asp293=)
NM_014874.4(MFN2):c.880C>G (p.Arg294Gly) rs866604005
NM_014874.4(MFN2):c.880C>T (p.Arg294Ter) rs866604005
NM_014874.4(MFN2):c.881G>A (p.Arg294Gln)
NM_014874.4(MFN2):c.887A>G (p.Gln296Arg)
NM_014874.4(MFN2):c.890C>T (p.Ala297Val)
NM_014874.4(MFN2):c.891C>G (p.Ala297=)
NM_014874.4(MFN2):c.898C>T (p.Arg300Cys) rs863224066
NM_014874.4(MFN2):c.910G>C (p.Val304Leu) rs2100839352
NM_014874.4(MFN2):c.912G>A (p.Val304=)
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala) rs1639171448
NM_014874.4(MFN2):c.916G>A (p.Ala306Thr) rs1553143847
NM_014874.4(MFN2):c.919A>G (p.Lys307Glu) rs1639171700
NM_014874.4(MFN2):c.91C>T (p.His31Tyr) rs1553140991
NM_014874.4(MFN2):c.922G>A (p.Glu308Lys) rs1553143852
NM_014874.4(MFN2):c.922G>C (p.Glu308Gln)
NM_014874.4(MFN2):c.922G>T (p.Glu308Ter) rs1553143852
NM_014874.4(MFN2):c.925G>A (p.Val309Met)
NM_014874.4(MFN2):c.927G>C (p.Val309=) rs779947209
NM_014874.4(MFN2):c.931A>G (p.Asn311Asp)
NM_014874.4(MFN2):c.93C>G (p.His31Gln)
NM_014874.4(MFN2):c.949G>T (p.Ala317Ser) rs2100839494
NM_014874.4(MFN2):c.950C>G (p.Ala317Gly) rs1639173341
NM_014874.4(MFN2):c.964G>A (p.Glu322Lys) rs1569852256
NM_014874.4(MFN2):c.969A>G (p.Gly323=) rs1639174381
NM_014874.4(MFN2):c.970+1G>T rs1553143890
NM_014874.4(MFN2):c.970+5T>G
NM_014874.4(MFN2):c.970+6G>A
NM_014874.4(MFN2):c.970+8T>C rs2100839593
NM_014874.4(MFN2):c.970+9G>A rs2100839595
NM_014874.4(MFN2):c.971-10A>G
NM_014874.4(MFN2):c.971-4C>G
NM_014874.4(MFN2):c.971-5C>T
NM_014874.4(MFN2):c.971-8C>T rs780000309
NM_014874.4(MFN2):c.976G>A (p.Ala326Thr) rs1324564667
NM_014874.4(MFN2):c.981C>T (p.Leu327=) rs747677218
NM_014874.4(MFN2):c.986_988del (p.Glu329del) rs1569853108
NM_014874.4(MFN2):c.987A>G (p.Glu329=)
NM_014874.4(MFN2):c.990C>T (p.Gly330=)
NM_014874.4(MFN2):c.997G>A (p.Val333Met) rs1009733171

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.