ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 321
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.-149-15T>G rs114306601 0.02781
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
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.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_014874.4(MFN2):c.1101G>C (p.Gln367His) rs373211062 0.00024
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.*1706T>G rs543365043 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.-161G>A rs140094248 0.00014
NM_014874.4(MFN2):c.1287+13G>C rs543940912 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.*26G>A rs374800481 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
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.1617A>G (p.Glu539=) rs556515947 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.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.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.2010C>T (p.Ser670=) rs777640054 0.00004
NM_014874.4(MFN2):c.2069+15C>T rs375924621 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.58C>T (p.His20Tyr) rs201715603 0.00004
NM_014874.4(MFN2):c.933C>T (p.Asn311=) rs150857365 0.00004
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.1392+7C>A rs759251276 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.33C>T (p.Ile11=) rs756450319 0.00003
NM_014874.4(MFN2):c.822G>A (p.Arg274=) rs528330690 0.00003
NM_014874.4(MFN2):c.1305C>T (p.Ala435=) rs1374507919 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.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.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.876G>T (p.Val292=) rs758376405 0.00002
NM_014874.4(MFN2):c.1039-20C>T rs1253046105 0.00001
NM_014874.4(MFN2):c.1086G>A (p.Thr362=) rs749652300 0.00001
NM_014874.4(MFN2):c.1161-7C>T rs1414918598 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.1191G>A (p.Arg397=) rs758952131 0.00001
NM_014874.4(MFN2):c.120T>C (p.Asn40=) rs756467977 0.00001
NM_014874.4(MFN2):c.1293G>T (p.Ser431=) rs751915674 0.00001
NM_014874.4(MFN2):c.1338C>T (p.Asp446=) rs376300393 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.1605T>C (p.Ala535=) rs575884069 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.175+12C>A rs186824858 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.1782C>T (p.Leu594=) rs950932066 0.00001
NM_014874.4(MFN2):c.1815C>T (p.Thr605=) rs751029047 0.00001
NM_014874.4(MFN2):c.1824C>T (p.Ala608=) rs774988978 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.1971G>A (p.Lys657=) rs764308150 0.00001
NM_014874.4(MFN2):c.1986G>A (p.Lys662=) rs1260208756 0.00001
NM_014874.4(MFN2):c.2016G>A (p.Lys672=) rs187058104 0.00001
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 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.2160A>G (p.Lys720=) rs769855660 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.2253G>A (p.Gln751=) rs948203067 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.49A>G (p.Asn17Asp) rs772477199 0.00001
NM_014874.4(MFN2):c.525C>T (p.Ala175=) rs751505990 0.00001
NM_014874.4(MFN2):c.558T>C (p.Ser186=) rs1280915201 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.709-9T>C rs776259256 0.00001
NM_014874.4(MFN2):c.78A>G (p.Ala26=) rs764662159 0.00001
NM_014874.4(MFN2):c.817-7G>A rs769298272 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.945G>A (p.Gln315=) rs1569852176 0.00001
NM_014874.4(MFN2):c.963T>G (p.Pro321=) rs1464024708 0.00001
NM_014874.4(MFN2):c.*221_*222dup rs558848411
NM_014874.4(MFN2):c.1002G>A (p.Arg334=) rs1410500132
NM_014874.4(MFN2):c.1017G>A (p.Gln339=) rs2100840368
NM_014874.4(MFN2):c.1029G>A (p.Arg343=)
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.1039-12TG[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.1047C>T (p.Ile349=) rs2100840933
NM_014874.4(MFN2):c.1086G>C (p.Thr362=)
NM_014874.4(MFN2):c.1090C>A (p.Arg364=) rs119103265
NM_014874.4(MFN2):c.1113G>C (p.Ala371=)
NM_014874.4(MFN2):c.1113G>T (p.Ala371=)
NM_014874.4(MFN2):c.1137G>A (p.Leu379=)
NM_014874.4(MFN2):c.1140C>T (p.His380=)
NM_014874.4(MFN2):c.1158G>A (p.Gln386=)
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.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.1182T>G (p.Arg394=)
NM_014874.4(MFN2):c.1194A>G (p.Gln398=) rs555006809
NM_014874.4(MFN2):c.1201C>T (p.Leu401=)
NM_014874.4(MFN2):c.1215C>T (p.Asp405=)
NM_014874.4(MFN2):c.1236T>C (p.Ala412=) rs2100847372
NM_014874.4(MFN2):c.1251G>T (p.Leu417=) rs1291955409
NM_014874.4(MFN2):c.1287+10GAG[2]
NM_014874.4(MFN2):c.1287+19G>A rs994622836
NM_014874.4(MFN2):c.1288-15T>C
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.1293G>A (p.Ser431=) rs751915674
NM_014874.4(MFN2):c.1296T>C (p.Thr432=) rs2100848678
NM_014874.4(MFN2):c.1320C>G (p.Arg440=)
NM_014874.4(MFN2):c.1330C>T (p.Leu444=) rs1639318979
NM_014874.4(MFN2):c.1332G>A (p.Leu444=)
NM_014874.4(MFN2):c.1332G>T (p.Leu444=) rs142848213
NM_014874.4(MFN2):c.1341T>C (p.Asp447=)
NM_014874.4(MFN2):c.1344C>T (p.Tyr448=) rs2100848957
NM_014874.4(MFN2):c.1356C>T (p.Phe452=)
NM_014874.4(MFN2):c.1380G>A (p.Lys460=)
NM_014874.4(MFN2):c.1392+12A>G
NM_014874.4(MFN2):c.1392+20G>T rs1367301944
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.1455C>T (p.Ala485=)
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.147C>T (p.Tyr49=)
NM_014874.4(MFN2):c.1488C>T (p.Asp496=)
NM_014874.4(MFN2):c.1495+13G>A
NM_014874.4(MFN2):c.1495+15_1495+16del rs2100850386
NM_014874.4(MFN2):c.1495+8C>A rs775224412
NM_014874.4(MFN2):c.1496-18C>T
NM_014874.4(MFN2):c.1496-8C>G rs1639377731
NM_014874.4(MFN2):c.1512C>T (p.Leu504=)
NM_014874.4(MFN2):c.1551C>T (p.Val517=)
NM_014874.4(MFN2):c.1582C>T (p.Leu528=)
NM_014874.4(MFN2):c.168C>T (p.Phe56=)
NM_014874.4(MFN2):c.1717-19C>G
NM_014874.4(MFN2):c.1717-5C>T rs1639425658
NM_014874.4(MFN2):c.1717-8C>G
NM_014874.4(MFN2):c.1717-9_1717-6del rs746359726
NM_014874.4(MFN2):c.171T>C (p.Leu57=) rs1443899568
NM_014874.4(MFN2):c.1731C>T (p.Ile577=)
NM_014874.4(MFN2):c.175+13C>T
NM_014874.4(MFN2):c.175+8G>T
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.176-4C>G rs546254672
NM_014874.4(MFN2):c.176-8A>C rs1189123888
NM_014874.4(MFN2):c.1782C>A (p.Leu594=) rs950932066
NM_014874.4(MFN2):c.180G>A (p.Thr60=)
NM_014874.4(MFN2):c.180G>T (p.Thr60=)
NM_014874.4(MFN2):c.1819C>T (p.Leu607=)
NM_014874.4(MFN2):c.1830G>A (p.Leu610=)
NM_014874.4(MFN2):c.1833A>T (p.Thr611=) rs2100856355
NM_014874.4(MFN2):c.183C>T (p.Tyr61=) rs1638734576
NM_014874.4(MFN2):c.1872+17G>T
NM_014874.4(MFN2):c.1873-13A>C
NM_014874.4(MFN2):c.1873-19C>T
NM_014874.4(MFN2):c.1884A>G (p.Ala628=) rs2100857953
NM_014874.4(MFN2):c.1890C>G (p.Gly630=)
NM_014874.4(MFN2):c.189T>C (p.Asn63=) rs2100812512
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1920C>T (p.Leu640=)
NM_014874.4(MFN2):c.1932C>T (p.Leu644=)
NM_014874.4(MFN2):c.1935C>T (p.Tyr645=)
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.1950G>A (p.Leu650=) rs772030424
NM_014874.4(MFN2):c.1980C>T (p.Ala660=) rs2100858469
NM_014874.4(MFN2):c.1989C>G (p.Arg663=)
NM_014874.4(MFN2):c.2001G>A (p.Glu667=)
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.2052C>T (p.Cys684=)
NM_014874.4(MFN2):c.2058C>T (p.His686=) rs1040857073
NM_014874.4(MFN2):c.2069+13G>C rs766629075
NM_014874.4(MFN2):c.2069+15C>G rs375924621
NM_014874.4(MFN2):c.2069+20C>A
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.2070-4C>T
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.210C>T (p.Thr70=)
NM_014874.4(MFN2):c.2118C>G (p.Thr706=) rs1281194317
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.2205-15dup
NM_014874.4(MFN2):c.2205-4G>A
NM_014874.4(MFN2):c.2214C>T (p.Ala738=) rs781669282
NM_014874.4(MFN2):c.2232G>A (p.Glu744=) rs756693072
NM_014874.4(MFN2):c.2256C>T (p.Tyr752=)
NM_014874.4(MFN2):c.2269A>C (p.Arg757=) rs1639700136
NM_014874.4(MFN2):c.244C>T (p.Leu82=)
NM_014874.4(MFN2):c.246A>C (p.Leu82=)
NM_014874.4(MFN2):c.249C>G (p.Ser83=)
NM_014874.4(MFN2):c.264C>T (p.Ile88=) rs1553141680
NM_014874.4(MFN2):c.273G>A (p.Val91=)
NM_014874.4(MFN2):c.273G>T (p.Val91=)
NM_014874.4(MFN2):c.279T>C (p.Ala93=)
NM_014874.4(MFN2):c.283A>C (p.Arg95=) rs1060501920
NM_014874.4(MFN2):c.288C>T (p.His96=) rs779756767
NM_014874.4(MFN2):c.311+14_311+15delinsTT rs2100813069
NM_014874.4(MFN2):c.311+7C>G
NM_014874.4(MFN2):c.311+7C>T
NM_014874.4(MFN2):c.312-10T>C
NM_014874.4(MFN2):c.312-18G>A
NM_014874.4(MFN2):c.327G>A (p.Lys109=)
NM_014874.4(MFN2):c.333C>T (p.Thr111=)
NM_014874.4(MFN2):c.351C>T (p.Leu117=) rs1468573342
NM_014874.4(MFN2):c.357C>T (p.Asp119=)
NM_014874.4(MFN2):c.366G>A (p.Leu122=) rs2100822411
NM_014874.4(MFN2):c.369C>G (p.Pro123=) rs1393819397
NM_014874.4(MFN2):c.393T>C (p.Asn131=)
NM_014874.4(MFN2):c.399C>T (p.Phe133=)
NM_014874.4(MFN2):c.423C>G (p.Gly141=)
NM_014874.4(MFN2):c.459A>G (p.Glu153=)
NM_014874.4(MFN2):c.462G>A (p.Lys154=) rs1255624199
NM_014874.4(MFN2):c.475-12C>T
NM_014874.4(MFN2):c.475-17C>G
NM_014874.4(MFN2):c.475-4T>A
NM_014874.4(MFN2):c.475-5A>G
NM_014874.4(MFN2):c.504C>T (p.His168=) rs2100826193
NM_014874.4(MFN2):c.510C>T (p.Asp170=) rs2100826208
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.597C>T (p.Asp199=)
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.600-8_600-7dup rs761842762
NM_014874.4(MFN2):c.618C>T (p.Thr206=)
NM_014874.4(MFN2):c.666G>A (p.Val222=) rs911933291
NM_014874.4(MFN2):c.66T>C (p.Ala22=)
NM_014874.4(MFN2):c.675G>A (p.Leu225=)
NM_014874.4(MFN2):c.708+10C>T rs1639049020
NM_014874.4(MFN2):c.708+9del
NM_014874.4(MFN2):c.709-19G>A
NM_014874.4(MFN2):c.744C>G (p.Leu248=) rs61733205
NM_014874.4(MFN2):c.747C>T (p.Ser249=)
NM_014874.4(MFN2):c.750G>A (p.Arg250=) rs1639056984
NM_014874.4(MFN2):c.768G>A (p.Leu256=) rs2100832631
NM_014874.4(MFN2):c.816+16T>C
NM_014874.4(MFN2):c.816+18G>A rs2100832894
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>C
NM_014874.4(MFN2):c.817-19A>G
NM_014874.4(MFN2):c.858G>A (p.Val286=)
NM_014874.4(MFN2):c.861T>C (p.Asp287=)
NM_014874.4(MFN2):c.864G>A (p.Glu288=) rs1569851796
NM_014874.4(MFN2):c.879T>C (p.Asp293=)
NM_014874.4(MFN2):c.891C>G (p.Ala297=)
NM_014874.4(MFN2):c.912G>A (p.Val304=)
NM_014874.4(MFN2):c.927G>C (p.Val309=) rs779947209
NM_014874.4(MFN2):c.970+8T>C rs2100839593
NM_014874.4(MFN2):c.970+9G>A rs2100839595
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.981C>T (p.Leu327=) rs747677218
NM_014874.4(MFN2):c.987A>G (p.Glu329=)
NM_014874.4(MFN2):c.990C>T (p.Gly330=)

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