ClinVar Miner

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

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP
MFN2, EX7-8DEL
NM_014874.3(MFN2):c.*1068C>T rs886045229
NM_014874.3(MFN2):c.*1100A>G rs41278638
NM_014874.3(MFN2):c.*1153C>T rs542684406
NM_014874.3(MFN2):c.*1161C>A rs115706485
NM_014874.3(MFN2):c.*121A>G rs886045222
NM_014874.3(MFN2):c.*1258G>A rs116156978
NM_014874.3(MFN2):c.*1276G>A rs766342161
NM_014874.3(MFN2):c.*1295G>A rs763783578
NM_014874.3(MFN2):c.*1392A>G rs886045230
NM_014874.3(MFN2):c.*1488C>T rs11554507
NM_014874.3(MFN2):c.*1539G>A rs557643473
NM_014874.3(MFN2):c.*1546G>A rs3737960
NM_014874.3(MFN2):c.*1562G>A rs551566332
NM_014874.3(MFN2):c.*1576C>T rs78523898
NM_014874.3(MFN2):c.*1640delA rs35943162
NM_014874.3(MFN2):c.*1640dupA rs35943162
NM_014874.3(MFN2):c.*1706T>G rs543365043
NM_014874.3(MFN2):c.*1794_*1796delATT rs540280019
NM_014874.3(MFN2):c.*1800_*1802delGTT rs140537612
NM_014874.3(MFN2):c.*221_*222dupTT rs558848411
NM_014874.3(MFN2):c.*231G>A rs41278636
NM_014874.3(MFN2):c.*256G>A rs557772799
NM_014874.3(MFN2):c.*297T>A rs886045224
NM_014874.3(MFN2):c.*36G>A rs377468070
NM_014874.3(MFN2):c.*413C>T rs558887681
NM_014874.3(MFN2):c.*57C>T rs886045221
NM_014874.3(MFN2):c.*58A>G rs1042842
NM_014874.3(MFN2):c.*610delG rs747291228
NM_014874.3(MFN2):c.*730C>T rs112550280
NM_014874.3(MFN2):c.*777T>C rs112854268
NM_014874.3(MFN2):c.*864T>C rs886045226
NM_014874.3(MFN2):c.*870C>T rs886045227
NM_014874.3(MFN2):c.*896G>C rs3088064
NM_014874.3(MFN2):c.*912C>T rs14305
NM_014874.3(MFN2):c.*935G>T rs886045228
NM_014874.3(MFN2):c.*946C>A rs765105334
NM_014874.3(MFN2):c.-149-15T>G rs114306601
NM_014874.3(MFN2):c.-161G>A rs140094248
NM_014874.3(MFN2):c.-217C>A rs886045218
NM_014874.3(MFN2):c.-249T>A rs2180182
NM_014874.3(MFN2):c.-287C>T rs2180181
NM_014874.3(MFN2):c.-328T>A rs886045217
NM_014874.3(MFN2):c.-344C>T rs886045216
NM_014874.3(MFN2):c.-4-13G>T rs373679523
NM_014874.3(MFN2):c.1040A>T (p.Glu347Val)
NM_014874.3(MFN2):c.1048T>C (p.Ser350Pro)
NM_014874.3(MFN2):c.1066A>G (p.Thr356Ala)
NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.3(MFN2):c.107_109AGA[2] (p.Lys38del) rs1478175861
NM_014874.3(MFN2):c.1081C>T (p.His361Tyr)
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)
NM_014874.3(MFN2):c.1126A>C (p.Met376Leu)
NM_014874.3(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.3(MFN2):c.1127T>C (p.Met376Thr)
NM_014874.3(MFN2):c.1127T>G (p.Met376Arg)
NM_014874.3(MFN2):c.1128G>A (p.Met376Ile) rs1553144059
NM_014874.3(MFN2):c.1132T>C (p.Ser378Pro)
NM_014874.3(MFN2):c.1134_1142del (p.Leu379_Met381del)
NM_014874.3(MFN2):c.1143_1145GGC[1] (p.Ala383del) rs1553144065
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)
NM_014874.3(MFN2):c.1169G>T (p.Cys390Phe)
NM_014874.3(MFN2):c.1198C>T (p.Arg400Ter) rs879253939
NM_014874.3(MFN2):c.1199G>C (p.Arg400Pro)
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.3(MFN2):c.1269G>A (p.Thr423=) rs145994616
NM_014874.3(MFN2):c.1271A>G (p.Glu424Gly) rs1557530247
NM_014874.3(MFN2):c.134A>G (p.Gln45Arg)
NM_014874.3(MFN2):c.1392+1G>A
NM_014874.3(MFN2):c.1392+2T>C rs111723244
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1453G>A (p.Ala485Thr)
NM_014874.3(MFN2):c.1487A>G (p.Asp496Gly)
NM_014874.3(MFN2):c.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.1537A>G (p.Ile513Val) rs755657087
NM_014874.3(MFN2):c.153G>T (p.Gln51His) rs886045219
NM_014874.3(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.3(MFN2):c.1556G>C (p.Arg519Pro)
NM_014874.3(MFN2):c.1569C>T (p.Ser523=) rs1042837
NM_014874.3(MFN2):c.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.1659G>A (p.Val553=) rs886045220
NM_014874.3(MFN2):c.165C>T (p.Thr55=) rs77458527
NM_014874.3(MFN2):c.1709A>G (p.Asn570Ser)
NM_014874.3(MFN2):c.1772_1773del (p.Gln591fs)
NM_014874.3(MFN2):c.179C>T (p.Thr60Met) rs138345244
NM_014874.3(MFN2):c.1806C>T (p.Ser602=) rs201258935
NM_014874.3(MFN2):c.1818C>T (p.Gly606=) rs373843969
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.1835C>A (p.Ser612Tyr)
NM_014874.3(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_014874.3(MFN2):c.1910C>T (p.Ser637Phe)
NM_014874.3(MFN2):c.1921T>C (p.Tyr641His)
NM_014874.3(MFN2):c.193G>T (p.Glu65Ter)
NM_014874.3(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_014874.3(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_014874.3(MFN2):c.1984A>G (p.Lys662Glu)
NM_014874.3(MFN2):c.1994T>C (p.Phe665Ser)
NM_014874.3(MFN2):c.2018T>C (p.Leu673Pro)
NM_014874.3(MFN2):c.2037C>G (p.Tyr679Ter)
NM_014874.3(MFN2):c.205G>T (p.Val69Phe) rs28940296
NM_014874.3(MFN2):c.2116A>C (p.Thr706Pro)
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.2120G>C (p.Arg707Pro)
NM_014874.3(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223
NM_014874.3(MFN2):c.2140A>G (p.Ile714Val)
NM_014874.3(MFN2):c.2145C>T (p.Ala715=) rs571011689
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)
NM_014874.3(MFN2):c.2204+15T>C rs77262016
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014874.3(MFN2):c.2213C>T (p.Ala738Val)
NM_014874.3(MFN2):c.2218T>C (p.Trp740Arg)
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.221A>G (p.Gln74Arg)
NM_014874.3(MFN2):c.2220G>C (p.Trp740Cys)
NM_014874.3(MFN2):c.2229T>A (p.Ser743Arg)
NM_014874.3(MFN2):c.2230_2231delinsAT (p.Glu744Met)
NM_014874.3(MFN2):c.2234T>C (p.Leu745Pro)
NM_014874.3(MFN2):c.2240T>C (p.Met747Thr)
NM_014874.3(MFN2):c.2249A>C (p.His750Pro)
NM_014874.3(MFN2):c.2251C>T (p.Gln751Ter) rs1557539119
NM_014874.3(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_014874.3(MFN2):c.2258dup (p.Gln754fs)
NM_014874.3(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.3(MFN2):c.239G>T (p.Gly80Val)
NM_014874.3(MFN2):c.250A>G (p.Lys84Glu)
NM_014874.3(MFN2):c.275T>C (p.Leu92Pro)
NM_014874.3(MFN2):c.275T>G (p.Leu92Arg)
NM_014874.3(MFN2):c.280C>G (p.Arg94Gly)
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.3(MFN2):c.281G>C (p.Arg94Pro)
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.306dup (p.Gly103fs)
NM_014874.3(MFN2):c.30dup (p.Ile11fs)
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.3(MFN2):c.311+1G>T
NM_014874.3(MFN2):c.311G>A (p.Arg104Gln)
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)
NM_014874.3(MFN2):c.322G>A (p.Gly108Arg)
NM_014874.3(MFN2):c.334G>A (p.Val112Met)
NM_014874.3(MFN2):c.368C>T (p.Pro123Leu)
NM_014874.3(MFN2):c.377T>G (p.Ile126Ser)
NM_014874.3(MFN2):c.380G>A (p.Gly127Asp)
NM_014874.3(MFN2):c.380G>T (p.Gly127Val)
NM_014874.3(MFN2):c.383A>G (p.His128Arg)
NM_014874.3(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.3(MFN2):c.395G>A (p.Cys132Tyr)
NM_014874.3(MFN2):c.404G>A (p.Arg135Gln) rs1443036026
NM_014874.3(MFN2):c.408= (p.Val136=)
NM_014874.3(MFN2):c.408A>T (p.Val136=) rs78814413
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) rs863224969
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
NM_014874.3(MFN2):c.475-1G>T
NM_014874.3(MFN2):c.477_478TG[1] (p.Val160fs)
NM_014874.3(MFN2):c.479T>G (p.Val160Gly) rs879253861
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>G (p.His165Arg) rs863224970
NM_014874.3(MFN2):c.494A>T (p.His165Leu)
NM_014874.3(MFN2):c.496G>A (p.Ala166Thr)
NM_014874.3(MFN2):c.500T>C (p.Leu167Pro)
NM_014874.3(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.605G>C (p.Gly202Ala)
NM_014874.3(MFN2):c.609T>G (p.Ile203Met)
NM_014874.3(MFN2):c.612T>A (p.Asp204Glu)
NM_014874.3(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_014874.3(MFN2):c.61A>G (p.Met21Val)
NM_014874.3(MFN2):c.638T>C (p.Ile213Thr) rs1557524703
NM_014874.3(MFN2):c.640G>A (p.Asp214Asn)
NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) rs387906990
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.3(MFN2):c.669T>A (p.Phe223Leu)
NM_014874.3(MFN2):c.677_688del (p.Val226_Ser229del)
NM_014874.3(MFN2):c.692C>T (p.Ser231Phe)
NM_014874.3(MFN2):c.694A>G (p.Thr232Ala)
NM_014874.3(MFN2):c.695C>A (p.Thr232Asn)
NM_014874.3(MFN2):c.697C>G (p.Leu233Val)
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)
NM_014874.3(MFN2):c.720C>G (p.Phe240Leu) rs864622480
NM_014874.3(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.3(MFN2):c.730G>T (p.Val244Leu) rs879253777
NM_014874.3(MFN2):c.742C>G (p.Leu248Val)
NM_014874.3(MFN2):c.746C>T (p.Ser249Phe) rs794729198
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)
NM_014874.3(MFN2):c.756C>A (p.Asn252Lys)
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.3(MFN2):c.776G>A (p.Arg259His)
NM_014874.3(MFN2):c.776G>T (p.Arg259Leu)
NM_014874.3(MFN2):c.787T>C (p.Ser263Pro)
NM_014874.3(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.3(MFN2):c.821G>A (p.Arg274Gln)
NM_014874.3(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_014874.3(MFN2):c.828G>C (p.Gln276His)
NM_014874.3(MFN2):c.829C>T (p.His277Tyr)
NM_014874.3(MFN2):c.830A>G (p.His277Arg) rs1064794316
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.3(MFN2):c.851T>A (p.Phe284Tyr)
NM_014874.3(MFN2):c.864G>C (p.Glu288Asp)
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.3(MFN2):c.922G>T (p.Glu308Ter)
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.3(MFN2):c.975C>T (p.Gly325=) rs141475476
NM_014874.3(MFN2):c.986_988del (p.Glu329del)

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