ClinVar Miner

List of variants in gene OPA3 reported as uncertain significance for 3-Methylglutaconic aciduria type 3

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Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.*1836C>T rs74717111 0.01070
NM_025136.4(OPA3):c.*4853T>A rs886054516 0.00709
NM_025136.4(OPA3):c.*6767G>A rs142898530 0.00668
NM_025136.4(OPA3):c.*6442A>G rs76825983 0.00518
NM_025136.4(OPA3):c.*1642A>G rs144894771 0.00484
NM_025136.4(OPA3):c.*4954C>T rs146646433 0.00462
NM_025136.4(OPA3):c.*6208C>T rs139798464 0.00458
NM_025136.4(OPA3):c.*398G>T rs183851663 0.00449
NM_025136.4(OPA3):c.*3117C>T rs569595277 0.00427
NM_025136.4(OPA3):c.*2101A>T rs139606810 0.00363
NM_025136.4(OPA3):c.*6101A>G rs187296782 0.00363
NM_025136.4(OPA3):c.*80G>T rs540023428 0.00315
NM_001017989.3(OPA3):c.143-16812G>A rs192699227 0.00300
NM_025136.4(OPA3):c.*5944G>A rs190885103 0.00271
NM_025136.4(OPA3):c.*6554G>A rs184177890 0.00229
NM_025136.4(OPA3):c.*3755G>A rs555830952 0.00225
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_025136.4(OPA3):c.*540G>T rs149360920 0.00220
NM_025136.4(OPA3):c.*5510G>A rs180756622 0.00213
NM_025136.3(OPA3):c.-113T>C rs139731330 0.00185
NM_025136.4(OPA3):c.*422C>T rs116977551 0.00184
NM_025136.4(OPA3):c.*2008C>T rs144432336 0.00156
NM_025136.4(OPA3):c.*3360G>A rs545764728 0.00156
NM_025136.4(OPA3):c.*5565C>T rs145816878 0.00149
NM_025136.4(OPA3):c.*3884G>A rs187028696 0.00128
NM_025136.4(OPA3):c.*2490C>T rs11671670 0.00117
NM_025136.4(OPA3):c.*6688G>A rs181576269 0.00102
NM_025136.4(OPA3):c.*2518A>G rs565012397 0.00096
NM_025136.4(OPA3):c.*4949G>A rs544881797 0.00092
NM_025136.4(OPA3):c.*5357G>A rs549141863 0.00092
NM_025136.4(OPA3):c.*1238G>A rs187216413 0.00088
NM_025136.4(OPA3):c.*677C>T rs560749495 0.00086
NM_025136.4(OPA3):c.*6436_*6437insG rs886054506 0.00085
NM_025136.4(OPA3):c.*3350T>G rs181719786 0.00070
NM_025136.4(OPA3):c.*698G>A rs561748985 0.00065
NM_025136.4(OPA3):c.*742A>T rs979052921 0.00059
NM_025136.4(OPA3):c.*6674T>C rs534603782 0.00056
NM_025136.4(OPA3):c.*1614C>T rs185624158 0.00051
NM_025136.4(OPA3):c.*4846A>T rs1438623626 0.00048
NM_025136.4(OPA3):c.*1213C>T rs539298843 0.00040
NM_025136.4(OPA3):c.*7181G>A rs74253369 0.00040
NM_025136.4(OPA3):c.*6902G>A rs528812143 0.00037
NM_025136.4(OPA3):c.*1070C>T rs146989248 0.00030
NM_025136.4(OPA3):c.*4372G>A rs573344031 0.00028
NM_025136.4(OPA3):c.*5660A>G rs935989223 0.00027
NM_025136.4(OPA3):c.*1091C>G rs557691359 0.00026
NM_025136.4(OPA3):c.*2714C>T rs781539538 0.00024
NM_025136.4(OPA3):c.*6698G>T rs768694312 0.00022
NM_025136.4(OPA3):c.*3891C>T rs752997579 0.00021
NM_025136.4(OPA3):c.*5570C>T rs766783593 0.00021
NM_025136.4(OPA3):c.*5739C>T rs375835737 0.00020
NM_025136.4(OPA3):c.*5013A>G rs780964248 0.00019
NM_025136.4(OPA3):c.*6072A>G rs576104602 0.00019
NM_025136.4(OPA3):c.*3278C>T rs770317628 0.00018
NM_025136.4(OPA3):c.*5597C>T rs560019290 0.00018
NM_025136.4(OPA3):c.*5923G>A rs149788703 0.00017
NM_025136.4(OPA3):c.*6626G>A rs139757997 0.00017
NM_025136.4(OPA3):c.*3442A>G rs138449967 0.00015
NM_025136.4(OPA3):c.*1018A>G rs534682712 0.00014
NM_025136.4(OPA3):c.*5045C>T rs573380409 0.00014
NM_025136.4(OPA3):c.*649C>T rs886054537 0.00014
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter) rs762180740 0.00010
NM_025136.4(OPA3):c.*5258A>G rs886054512 0.00010
NM_025136.4(OPA3):c.*1863T>G rs769185702 0.00009
NM_025136.4(OPA3):c.*4773A>G rs1409082190 0.00009
NM_025136.4(OPA3):c.*5496C>T rs886054511 0.00009
NM_025136.4(OPA3):c.*3644C>T rs914226398 0.00008
NM_025136.4(OPA3):c.*4521G>A rs886054521 0.00008
NM_025136.4(OPA3):c.*5873C>T rs886054509 0.00008
NM_025136.4(OPA3):c.*6361G>A rs1020767023 0.00007
NM_025136.4(OPA3):c.*821A>T rs886054536 0.00007
NM_025136.4(OPA3):c.*2545G>A rs886054528 0.00006
NM_025136.4(OPA3):c.*4233G>A rs576081836 0.00006
NM_025136.4(OPA3):c.*4585C>T rs886054520 0.00006
NM_025136.4(OPA3):c.*4618G>A rs1165606483 0.00006
NM_025136.4(OPA3):c.*5277G>A rs535986790 0.00006
NM_025136.4(OPA3):c.*6278G>A rs886054507 0.00006
NM_025136.4(OPA3):c.428C>T (p.Ala143Val) rs553598004 0.00006
NM_025136.4(OPA3):c.*1462C>T rs978328141 0.00005
NM_025136.4(OPA3):c.*4586G>A rs886054519 0.00005
NM_025136.4(OPA3):c.*5730C>T rs1308663626 0.00005
NM_025136.4(OPA3):c.*7018G>C rs557041940 0.00005
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter) rs374175877 0.00004
NM_025136.4(OPA3):c.*3845C>T rs886054525 0.00004
NM_025136.4(OPA3):c.*6125G>A rs780617440 0.00004
NM_025136.4(OPA3):c.*6570G>C rs773109015 0.00004
NM_025136.4(OPA3):c.*761C>T rs1020788721 0.00004
NM_025136.4(OPA3):c.*922G>T rs886054535 0.00004
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter) rs759861826 0.00003
NM_025136.4(OPA3):c.*1214G>A rs368652706 0.00003
NM_025136.4(OPA3):c.*1693C>T rs904110306 0.00003
NM_025136.4(OPA3):c.*2089T>C rs886054529 0.00003
NM_025136.4(OPA3):c.*3128C>G rs143702010 0.00003
NM_025136.4(OPA3):c.*3754C>T rs981647131 0.00003
NM_025136.4(OPA3):c.143-5C>A rs770452409 0.00003
NM_025136.4(OPA3):c.*1095C>A rs148228876 0.00002
NM_025136.4(OPA3):c.*420A>G rs868102539 0.00002
NM_025136.4(OPA3):c.*4439C>T rs538388889 0.00002
NM_025136.4(OPA3):c.*5644A>G rs1393651897 0.00002
NM_025136.4(OPA3):c.*5783G>A rs550679720 0.00002
NM_025136.4(OPA3):c.*6124C>T rs1389766474 0.00002
NM_025136.4(OPA3):c.*964G>A rs1969350328 0.00002
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr) rs186796646 0.00002
NM_025136.4(OPA3):c.*1052C>T rs539341907 0.00001
NM_025136.4(OPA3):c.*1063G>A rs1384983234 0.00001
NM_025136.4(OPA3):c.*1193A>G rs1969345485 0.00001
NM_025136.4(OPA3):c.*1496C>T rs938973035 0.00001
NM_025136.4(OPA3):c.*1799A>G rs886054530 0.00001
NM_025136.4(OPA3):c.*2041C>G rs1200054696 0.00001
NM_025136.4(OPA3):c.*2620C>A rs528208456 0.00001
NM_025136.4(OPA3):c.*322A>G rs886054539 0.00001
NM_025136.4(OPA3):c.*3472G>A rs1305422353 0.00001
NM_025136.4(OPA3):c.*3581C>T rs576070088 0.00001
NM_025136.4(OPA3):c.*4464G>T rs886054522 0.00001
NM_025136.4(OPA3):c.*4763C>A rs549495140 0.00001
NM_025136.4(OPA3):c.*4919_*4921del rs886054514 0.00001
NM_025136.4(OPA3):c.*5888C>T rs886054508 0.00001
NM_025136.4(OPA3):c.*6046G>A rs1010630541 0.00001
NM_025136.4(OPA3):c.*6461C>T rs886054505 0.00001
NM_025136.4(OPA3):c.*6773G>T rs886054504 0.00001
NM_025136.4(OPA3):c.*7072A>T rs1247746346 0.00001
NM_025136.4(OPA3):c.*7183G>A rs941194280 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_025136.4(OPA3):c.367C>T (p.Arg123Trp) rs1022155897 0.00001
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg) rs1399150102 0.00001
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853 0.00001
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe) rs780492515 0.00001
NM_025136.4(OPA3):c.94C>A (p.Arg32Ser) rs753632531 0.00001
NM_001017989.3(OPA3):c.221del (p.Gly74fs) rs779350552
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter) rs763348163
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter) rs780614894
NM_001017989.3(OPA3):c.268_270del (p.Phe90del) rs755084544
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001017989.3(OPA3):c.380del (p.Gly127fs) rs1555730165
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) rs1599947088
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter) rs1555730157
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln) rs1555730136
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp) rs375580763
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer) rs1555730133
NM_025136.4(OPA3):c.*1076A>G rs886054533
NM_025136.4(OPA3):c.*1254A>C rs886054532
NM_025136.4(OPA3):c.*1478A>G rs886054531
NM_025136.4(OPA3):c.*1761A>T rs141446737
NM_025136.4(OPA3):c.*2188G>A rs1969330324
NM_025136.4(OPA3):c.*2198C>T rs1969330113
NM_025136.4(OPA3):c.*2590G>T rs886054527
NM_025136.4(OPA3):c.*2662G>A rs1969322157
NM_025136.4(OPA3):c.*2702G>T rs886054526
NM_025136.4(OPA3):c.*2726G>C rs993813343
NM_025136.4(OPA3):c.*2859A>T rs534780094
NM_025136.4(OPA3):c.*2896G>A rs190488484
NM_025136.4(OPA3):c.*2964T>C rs1969317127
NM_025136.4(OPA3):c.*302C>T rs886054540
NM_025136.4(OPA3):c.*3156G>T rs1969314043
NM_025136.4(OPA3):c.*3245C>T rs1969312880
NM_025136.4(OPA3):c.*324GT[1] rs571672143
NM_025136.4(OPA3):c.*3295C>G rs1969311980
NM_025136.4(OPA3):c.*3358C>G rs965480314
NM_025136.4(OPA3):c.*3496C>G rs749084024
NM_025136.4(OPA3):c.*3570C>T rs1969307390
NM_025136.4(OPA3):c.*3669G>T rs1024454874
NM_025136.4(OPA3):c.*3804G>A rs890552307
NM_025136.4(OPA3):c.*4026del rs879119658
NM_025136.4(OPA3):c.*4026dup rs879119658
NM_025136.4(OPA3):c.*4241C>T rs375276027
NM_025136.4(OPA3):c.*4419C>T rs886054523
NM_025136.4(OPA3):c.*4696ATAA[6] rs58537694
NM_025136.4(OPA3):c.*4696ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4696ATAA[9] rs58537694
NM_025136.4(OPA3):c.*4712del rs886054518
NM_025136.4(OPA3):c.*4771C>G rs972332094
NM_025136.4(OPA3):c.*4862_*4865del rs886054515
NM_025136.4(OPA3):c.*4969C>G rs886054513
NM_025136.4(OPA3):c.*4975C>T rs567309052
NM_025136.4(OPA3):c.*50_*52del rs886054541
NM_025136.4(OPA3):c.*545G>T rs886054538
NM_025136.4(OPA3):c.*5774G>C rs886054510
NM_025136.4(OPA3):c.*5774G>T rs886054510
NM_025136.4(OPA3):c.*6289A>G rs182293743
NM_025136.4(OPA3):c.*6766C>T rs978118927
NM_025136.4(OPA3):c.*690G>T rs1969355536
NM_025136.4(OPA3):c.*7096_*7100del rs565521231
NM_025136.4(OPA3):c.*713C>G rs143735864
NM_025136.4(OPA3):c.*986dup rs377547137
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs) rs1555732942
NM_025136.4(OPA3):c.331_333del (p.Lys111del) rs1353357190
NM_025136.4(OPA3):c.334del (p.Glu112fs) rs1555732911
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro) rs372161100
NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup) rs1363616568
NM_025136.4(OPA3):c.431del (p.Pro144fs) rs1205708262
NM_025136.4(OPA3):c.470_478del (p.Gln157_Val159del) rs745544229

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