ClinVar Miner

List of variants in gene MFN2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.176-207G>A rs6675934 0.88297
NM_014874.4(MFN2):c.*58A>G rs1042842 0.71104
NM_014874.4(MFN2):c.474+65C>T rs2236056 0.64979
NM_014874.4(MFN2):c.1160+201C>G rs2236058 0.57223
NM_014874.4(MFN2):c.1873-66T>G rs7550536 0.54079
NM_014874.4(MFN2):c.816+260C>T rs2295281 0.45894
NM_014874.4(MFN2):c.2204+15T>C rs77262016 0.07571
NM_014874.4(MFN2):c.1716+125C>T rs74052925 0.04600
NM_014874.4(MFN2):c.1716+91_1716+92dup rs150488282 0.04591
NM_014874.4(MFN2):c.1495+186A>G rs3766742 0.04496
NM_014874.4(MFN2):c.2069+82C>T rs11586204 0.04464
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_014874.4(MFN2):c.600-25T>C rs41278626 0.04459
NM_014874.4(MFN2):c.1717-271A>G rs11579994 0.04446
NM_014874.4(MFN2):c.1039-22T>C rs6680984 0.04312
NM_014874.4(MFN2):c.1872+63T>C rs2273295 0.03984
NM_014874.4(MFN2):c.2070-63C>T rs115175952 0.03125
NM_014874.4(MFN2):c.1717-177T>C rs112638989 0.02858
NM_014874.4(MFN2):c.312-138C>G rs79244021 0.02852
NM_014874.4(MFN2):c.600-247G>A rs149142526 0.02659
NM_014874.4(MFN2):c.-149-15T>G rs114306601 0.02587
NM_014874.4(MFN2):c.817-108G>A rs139807696 0.02523
NM_014874.4(MFN2):c.599+115A>C rs78727601 0.02499
NM_014874.4(MFN2):c.474+278A>G rs79492543 0.02496
NM_014874.4(MFN2):c.176-59C>G rs17037562 0.02488
NM_014874.4(MFN2):c.175+219_175+220del rs142734466 0.02485
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_014874.4(MFN2):c.2069+30G>C rs77941748 0.01637
NM_014874.4(MFN2):c.475-232T>G rs115256192 0.01616
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.2204+118A>G rs77738831 0.01480
NM_014874.4(MFN2):c.1495+310C>T rs116817317 0.01457
NM_014874.4(MFN2):c.1039-41C>G rs115054993 0.01366
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_014874.4(MFN2):c.1496-34T>C rs143065633 0.01190
NM_014874.4(MFN2):c.474+86A>C rs6678781 0.01151
NM_014874.4(MFN2):c.1039-19G>A rs74052923 0.01120
NM_014874.4(MFN2):c.600-116G>A rs41278624 0.00928
NM_014874.4(MFN2):c.599+109A>G rs75754772 0.00898
NM_014874.4(MFN2):c.176-200G>T rs116722569 0.00844
NM_014874.4(MFN2):c.-4-221C>A rs192381474 0.00799
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.311+315A>G rs114350897 0.00670
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.475-38T>C rs151226551 0.00556
NM_014874.4(MFN2):c.1495+236C>A rs141359660 0.00479
NM_014874.4(MFN2):c.975C>T (p.Gly325=) rs141475476 0.00357
NM_014874.4(MFN2):c.474+88G>C rs540377814 0.00302
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.1161-197C>T rs117745744 0.00247
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.475-33C>T rs76051569 0.00168
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.-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.2119C>T (p.Arg707Trp) rs119103267 0.00029
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.2069+16G>A rs376673392 0.00016
NM_014874.4(MFN2):c.-161G>A rs140094248 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.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.1150C>T (p.Arg384Trp) rs777353788 0.00009
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr) rs61733203 0.00008
NM_014874.4(MFN2):c.1617A>G (p.Glu539=) rs556515947 0.00007
NM_014874.4(MFN2):c.1779G>A (p.Ser593=) rs367623682 0.00006
NM_014874.4(MFN2):c.1875G>A (p.Val625=) rs747719940 0.00006
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_014874.4(MFN2):c.-10A>G rs575581303 0.00004
NM_014874.4(MFN2):c.1108G>C (p.Glu370Gln) rs377402479 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.2069+15C>T rs375924621 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.647T>C (p.Phe216Ser) rs387906990 0.00004
NM_014874.4(MFN2):c.1113G>A (p.Ala371=) rs766570486 0.00003
NM_014874.4(MFN2):c.1161-18C>T rs1351551038 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.204C>T (p.Pro68=) rs148399574 0.00003
NM_014874.4(MFN2):c.1061T>C (p.Val354Ala) rs1057518235 0.00002
NM_014874.4(MFN2):c.1180C>T (p.Arg394Cys) rs186448929 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.311+9T>C rs771439230 0.00002
NM_014874.4(MFN2):c.645G>A (p.Lys215=) rs767693664 0.00002
NM_014874.4(MFN2):c.696C>G (p.Thr232=) rs769923700 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.1039-20C>T rs1253046105 0.00001
NM_014874.4(MFN2):c.1162G>A (p.Val388Ile) rs924011766 0.00001
NM_014874.4(MFN2):c.1174G>A (p.Glu392Lys) rs767111551 0.00001
NM_014874.4(MFN2):c.1190G>A (p.Arg397Gln) rs778219078 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.1413G>A (p.Glu471=) rs745360979 0.00001
NM_014874.4(MFN2):c.1442G>A (p.Arg481His) rs767718891 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.1564T>C (p.Phe522Leu) rs747397065 0.00001
NM_014874.4(MFN2):c.163A>T (p.Thr55Ser) rs776423551 0.00001
NM_014874.4(MFN2):c.1729A>G (p.Ile577Val) rs749606728 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 0.00001
NM_014874.4(MFN2):c.1951A>G (p.Thr651Ala) rs772756022 0.00001
NM_014874.4(MFN2):c.1978G>A (p.Ala660Thr) rs762292163 0.00001
NM_014874.4(MFN2):c.2060A>G (p.Gln687Arg) rs879253910 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.525C>T (p.Ala175=) rs751505990 0.00001
NM_014874.4(MFN2):c.541G>A (p.Val181Met) rs863224064 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NM_014874.4(MFN2):c.725A>G (p.His242Arg) rs863224065 0.00001
NM_014874.4(MFN2):c.899G>A (p.Arg300His) rs1226075443 0.00001
NM_014874.4(MFN2):c.982G>A (p.Ala328Thr) rs771900151 0.00001
GRCh37/hg19 1p36.22(chr1:12052305-12057623)x3
NM_014874.4(MFN2):c.-149-20C>A rs1053095330
NM_014874.4(MFN2):c.-149-43_-149-38dup rs34602102
NM_014874.4(MFN2):c.-149-44_-149-38dup rs34602102
NM_014874.4(MFN2):c.-149-45_-149-38dup rs34602102
NM_014874.4(MFN2):c.-149-46_-149-45insGTTTTTTTTT rs763918741
NM_014874.4(MFN2):c.-150+4A>T rs879253978
NM_014874.4(MFN2):c.1003A>T (p.Met335Leu)
NM_014874.4(MFN2):c.1030A>G (p.Arg344Gly) rs1131691642
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.1082A>G (p.His361Arg) rs1064793170
NM_014874.4(MFN2):c.1084A>C (p.Thr362Pro) rs879254176
NM_014874.4(MFN2):c.1087G>T (p.Val363Phe)
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.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.1161-312del rs60299433
NM_014874.4(MFN2):c.1161-312dup rs60299433
NM_014874.4(MFN2):c.1165T>C (p.Tyr389His) rs863224070
NM_014874.4(MFN2):c.1190G>C (p.Arg397Pro) rs778219078
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter) rs879253939
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.1339G>A (p.Asp447Asn) rs368032696
NM_014874.4(MFN2):c.1409_1410del (p.Ile470fs) rs1569862384
NM_014874.4(MFN2):c.1418G>A (p.Gly473Glu) rs542858566
NM_014874.4(MFN2):c.1517C>T (p.Pro506Leu)
NM_014874.4(MFN2):c.1535A>G (p.Gln512Arg) rs2100852773
NM_014874.4(MFN2):c.1560G>T (p.Gln520His) rs2100852881
NM_014874.4(MFN2):c.1716+233dup rs3830887
NM_014874.4(MFN2):c.171T>C (p.Leu57=) rs1443899568
NM_014874.4(MFN2):c.1873-154C>G rs116069423
NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp) rs772701127
NM_014874.4(MFN2):c.1904C>A (p.Ala635Asp) rs863224071
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1968C>G (p.Ala656=) rs763381681
NM_014874.4(MFN2):c.1984A>G (p.Lys662Glu) rs1569871448
NM_014874.4(MFN2):c.1991A>G (p.Gln664Arg) rs2100858529
NM_014874.4(MFN2):c.2004T>G (p.His668Gln) rs549425750
NM_014874.4(MFN2):c.2026G>A (p.Val676Ile) rs1057520619
NM_014874.4(MFN2):c.2077_2080del (p.Ser693fs) rs1218501764
NM_014874.4(MFN2):c.2108T>C (p.Val703Ala) rs879253944
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.2205-120C>G rs3766741
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
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.2230G>A (p.Glu744Lys) rs1064794571
NM_014874.4(MFN2):c.2231A>G (p.Glu744Gly) rs1131691782
NM_014874.4(MFN2):c.2240T>G (p.Met747Arg) rs879254059
NM_014874.4(MFN2):c.2270G>C (p.Arg757Thr)
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.4(MFN2):c.248C>G (p.Ser83Cys) rs372451582
NM_014874.4(MFN2):c.254T>C (p.Val85Ala) rs1553141664
NM_014874.4(MFN2):c.264C>G (p.Ile88Met) rs1553141680
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.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.311+285_311+289dup rs35911686
NM_014874.4(MFN2):c.311+286_311+289dup rs35911686
NM_014874.4(MFN2):c.311+287_311+289dup rs35911686
NM_014874.4(MFN2):c.311+288_311+289dup rs35911686
NM_014874.4(MFN2):c.311+289dup rs35911686
NM_014874.4(MFN2):c.311G>A (p.Arg104Gln) rs863224068
NM_014874.4(MFN2):c.358A>G (p.Lys120Glu)
NM_014874.4(MFN2):c.382C>T (p.His128Tyr) rs2100822486
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.4(MFN2):c.406dup (p.Val136fs) rs759844257
NM_014874.4(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.4(MFN2):c.462_463delinsTT (p.Lys154_Arg155delinsAsnTrp) rs2100822768
NM_014874.4(MFN2):c.475-240del rs35141271
NM_014874.4(MFN2):c.475-240dup rs35141271
NM_014874.4(MFN2):c.475-241_475-240del rs35141271
NM_014874.4(MFN2):c.475-259C>A rs1425252988
NM_014874.4(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.4(MFN2):c.564C>T (p.Cys188=) rs536007087
NM_014874.4(MFN2):c.572T>C (p.Leu191Pro) rs879254288
NM_014874.4(MFN2):c.600-220AAAAC[4] rs55676620
NM_014874.4(MFN2):c.613G>A (p.Val205Ile) rs2100831623
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp) rs1162977959
NM_014874.4(MFN2):c.628G>T (p.Asp210Tyr) rs1064794315
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.4(MFN2):c.659C>T (p.Ala220Val) rs879254010
NM_014874.4(MFN2):c.666G>A (p.Val222=) rs911933291
NM_014874.4(MFN2):c.677_688del (p.Val226_Ser229del) rs1569842627
NM_014874.4(MFN2):c.690G>T (p.Glu230Asp) rs1569842685
NM_014874.4(MFN2):c.703C>G (p.Gln235Glu) rs879254210
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.721T>G (p.Phe241Val) rs879253924
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.4(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup) rs1553143791
NM_014874.4(MFN2):c.830A>G (p.His277Arg) rs1064794316
NM_014874.4(MFN2):c.838C>T (p.Arg280Cys) rs879253957
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.4(MFN2):c.898C>T (p.Arg300Cys) rs863224066
NM_014874.4(MFN2):c.927G>C (p.Val309=) rs779947209
NM_014874.4(MFN2):c.974G>A (p.Gly325Asp)

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