ClinVar Miner

List of variants reported as uncertain significance for 3-methylglutaconic aciduria

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 287
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HGVS dbSNP
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NM_000116.4(TAZ):c.110-17C>T rs62617809
NM_000116.5(TAZ):c.*387C>T rs1057515819
NM_000116.5(TAZ):c.238+6C>T
NM_000116.5(TAZ):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAZ):c.284+4A>T
NM_000116.5(TAZ):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAZ):c.331C>T (p.His111Tyr) rs200405157
NM_000116.5(TAZ):c.416A>T (p.Asp139Val)
NM_000116.5(TAZ):c.460+1G>A rs878853655
NM_000116.5(TAZ):c.469G>A (p.Val157Ile)
NM_000116.5(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAZ):c.51G>T (p.Trp17Cys)
NM_000116.5(TAZ):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.5(TAZ):c.562G>A (p.Glu188Lys)
NM_000116.5(TAZ):c.576C>G (p.Phe192Leu)
NM_000116.5(TAZ):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAZ):c.606G>C (p.Glu202Asp)
NM_000116.5(TAZ):c.647G>A (p.Gly216Glu)
NM_000116.5(TAZ):c.674C>T (p.Pro225Leu) rs375151766
NM_000116.5(TAZ):c.689G>A (p.Arg230His)
NM_000116.5(TAZ):c.751C>T (p.Arg251Trp) rs372689133
NM_000116.5(TAZ):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAZ):c.758G>A (p.Arg253Gln) rs782653725
NM_000116.5(TAZ):c.763G>A (p.Glu255Lys) rs782498694
NM_000116.5(TAZ):c.768C>G (p.Asn256Lys) rs926124671
NM_000116.5(TAZ):c.777+6T>C
NM_000116.5(TAZ):c.790A>G (p.Lys264Glu) rs1557194488
NM_001017989.2(OPA3):c.142+2_142+3dup rs1555736791
NM_001017989.3(OPA3):c.-7C>G rs199590627
NM_001017989.3(OPA3):c.142+5G>C rs1250409781
NM_001017989.3(OPA3):c.143-16812G>A rs192699227
NM_001017989.3(OPA3):c.143-16962_143-16958del rs565521231
NM_001017989.3(OPA3):c.143-17156G>A rs528812143
NM_001017989.3(OPA3):c.143-17285G>T rs886054504
NM_001017989.3(OPA3):c.143-17370G>A rs181576269
NM_001017989.3(OPA3):c.143-17384T>C rs534603782
NM_001017989.3(OPA3):c.143-17488G>C rs773109015
NM_001017989.3(OPA3):c.143-17597C>T rs886054505
NM_001017989.3(OPA3):c.143-17622_143-17621insG rs886054506
NM_001017989.3(OPA3):c.143-17769A>G rs182293743
NM_001017989.3(OPA3):c.143-17780G>A rs886054507
NM_001017989.3(OPA3):c.143-17933G>A rs780617440
NM_001017989.3(OPA3):c.143-17986A>G rs576104602
NM_001017989.3(OPA3):c.143-18170C>T rs886054508
NM_001017989.3(OPA3):c.143-18185C>T rs886054509
NM_001017989.3(OPA3):c.143-18284G>C rs886054510
NM_001017989.3(OPA3):c.143-18284G>T rs886054510
NM_001017989.3(OPA3):c.143-18319C>T rs375835737
NM_001017989.3(OPA3):c.143-18461C>T rs560019290
NM_001017989.3(OPA3):c.143-18562C>T rs886054511
NM_001017989.3(OPA3):c.143-18701G>A rs549141863
NM_001017989.3(OPA3):c.143-18800A>G rs886054512
NM_001017989.3(OPA3):c.143-19089C>G rs886054513
NM_001017989.3(OPA3):c.143-19104C>T rs146646433
NM_001017989.3(OPA3):c.143-19139_143-19137del rs886054514
NM_001017989.3(OPA3):c.143-19196_143-19193del rs886054515
NM_001017989.3(OPA3):c.143-19205T>A rs886054516
NM_001017989.3(OPA3):c.143-19346del rs886054518
NM_001017989.3(OPA3):c.143-19362ATAA[6] rs58537694
NM_001017989.3(OPA3):c.143-19362ATAA[8] rs58537694
NM_001017989.3(OPA3):c.143-19362ATAA[9] rs58537694
NM_001017989.3(OPA3):c.143-19472G>A rs886054519
NM_001017989.3(OPA3):c.143-19473C>T rs886054520
NM_001017989.3(OPA3):c.143-19537G>A rs886054521
NM_001017989.3(OPA3):c.143-19594G>T rs886054522
NM_001017989.3(OPA3):c.143-19619C>T rs538388889
NM_001017989.3(OPA3):c.143-19639C>T rs886054523
NM_001017989.3(OPA3):c.143-20032del rs879119658
NM_001017989.3(OPA3):c.143-20043dup rs879119658
NM_001017989.3(OPA3):c.143-20167C>T rs752997579
NM_001017989.3(OPA3):c.143-20174G>A rs187028696
NM_001017989.3(OPA3):c.143-20213C>T rs886054525
NM_001017989.3(OPA3):c.143-20303G>A rs555830952
NM_001017989.3(OPA3):c.143-20477C>T rs576070088
NM_001017989.3(OPA3):c.143-20562C>G rs749084024
NM_001017989.3(OPA3):c.143-20698G>A rs545764728
NM_001017989.3(OPA3):c.143-20780C>T rs770317628
NM_001017989.3(OPA3):c.143-21162G>A rs190488484
NM_001017989.3(OPA3):c.143-21344C>T rs781539538
NM_001017989.3(OPA3):c.143-21356G>T rs886054526
NM_001017989.3(OPA3):c.143-21468G>T rs886054527
NM_001017989.3(OPA3):c.143-21513G>A rs886054528
NM_001017989.3(OPA3):c.143-21568C>T rs11671670
NM_001017989.3(OPA3):c.143-21969T>C rs886054529
NM_001017989.3(OPA3):c.143-22195T>G rs769185702
NM_001017989.3(OPA3):c.143-22259A>G rs886054530
NM_001017989.3(OPA3):c.143-22580A>G rs886054531
NM_001017989.3(OPA3):c.143-22804A>C rs886054532
NM_001017989.3(OPA3):c.143-22820G>A rs187216413
NM_001017989.3(OPA3):c.143-22845C>T rs539298843
NM_001017989.3(OPA3):c.143-22967C>G rs557691359
NM_001017989.3(OPA3):c.143-22982A>G rs886054533
NM_001017989.3(OPA3):c.143-23087dup rs377547137
NM_001017989.3(OPA3):c.143-23136G>T rs886054535
NM_001017989.3(OPA3):c.143-23237A>T rs886054536
NM_001017989.3(OPA3):c.143-23345C>G rs143735864
NM_001017989.3(OPA3):c.143-23381C>T rs560749495
NM_001017989.3(OPA3):c.143-23409C>T rs886054537
NM_001017989.3(OPA3):c.143-23513G>T rs886054538
NM_001017989.3(OPA3):c.143-23638A>G rs868102539
NM_001017989.3(OPA3):c.143-23732_143-23731del rs571672143
NM_001017989.3(OPA3):c.143-23736A>G rs886054539
NM_001017989.3(OPA3):c.143-23756C>T rs886054540
NM_001017989.3(OPA3):c.143-24008_143-24006del rs886054541
NM_001017989.3(OPA3):c.143-24111C>T rs780492515
NM_001017989.3(OPA3):c.143-24128_143-24120del rs745544229
NM_001017989.3(OPA3):c.143-24154C>T rs759536853
NM_001017989.3(OPA3):c.143-24167del rs1205708262
NM_001017989.3(OPA3):c.143-24179_143-24174dup rs1363616568
NM_001017989.3(OPA3):c.143-24264del rs1555732911
NM_001017989.3(OPA3):c.143-24267_143-24265del rs1353357190
NM_001017989.3(OPA3):c.143-24293_143-24276dup
NM_001017989.3(OPA3):c.143-24350_143-24347dup rs1555732942
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter) rs759861826
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.2_4TGG[2] (p.Val3del) rs1555736840
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.415C>T (p.Gln139Ter) rs762180740
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter) rs374175877
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) rs1555730158
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter) rs1555730157
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)
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_001081.3(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638
NM_001081.3(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233
NM_001081.3(CUBN):c.10612G>A (p.Glu3538Lys)
NM_001081.3(CUBN):c.10764+1G>A rs374982220
NM_001081.3(CUBN):c.1558C>T (p.Arg520Trp) rs564637804
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala)
NM_001081.3(CUBN):c.2306G>A (p.Arg769Gln)
NM_001081.3(CUBN):c.2810C>G (p.Thr937Arg)
NM_001081.3(CUBN):c.2822G>A (p.Gly941Glu)
NM_001081.3(CUBN):c.2929T>C (p.Phe977Leu)
NM_001081.3(CUBN):c.322A>G (p.Ser108Gly) rs1564526263
NM_001081.3(CUBN):c.3391A>G (p.Thr1131Ala)
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.349C>A (p.Leu117Met)
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.3646C>G (p.Pro1216Ala)
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp)
NM_001081.3(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169
NM_001081.3(CUBN):c.3932G>A (p.Arg1311Gln)
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) rs201958183
NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.3(CUBN):c.5302_5304del (p.Ile1768del) rs775161946
NM_001081.3(CUBN):c.536G>T (p.Gly179Val)
NM_001081.3(CUBN):c.5459A>G (p.Tyr1820Cys)
NM_001081.3(CUBN):c.5470G>A (p.Val1824Ile)
NM_001081.3(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.3(CUBN):c.5806_5807delinsAA (p.Ser1936Asn) rs1554796668
NM_001081.3(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001081.3(CUBN):c.6020C>T (p.Thr2007Met)
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.6225G>A (p.Ser2075=) rs75737363
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.6728C>T (p.Pro2243Leu)
NM_001081.3(CUBN):c.6833A>G (p.Asn2278Ser)
NM_001081.3(CUBN):c.6847C>T (p.Arg2283Trp)
NM_001081.3(CUBN):c.7007G>A (p.Cys2336Tyr)
NM_001081.3(CUBN):c.704G>C (p.Arg235Pro)
NM_001081.3(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.3(CUBN):c.7331G>A (p.Arg2444Gln)
NM_001081.3(CUBN):c.7390A>C (p.Thr2464Pro)
NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys)
NM_001081.3(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg)
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8278A>G (p.Ile2760Val)
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8578T>G (p.Cys2860Gly)
NM_001081.3(CUBN):c.8680C>G (p.Pro2894Ala)
NM_001081.3(CUBN):c.8711C>T (p.Ser2904Phe)
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444
NM_001081.3(CUBN):c.9166G>A (p.Ala3056Thr)
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001081.3(CUBN):c.9555T>G (p.Cys3185Trp)
NM_001081.3(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu)
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn)
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys)
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys)
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys)
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys)
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
NM_001258392.3(CLPB):c.1786-3C>T
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) rs137882645
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) rs1424542665
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe)
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
NM_001258392.3(CLPB):c.646+6T>C
NM_001258392.3(CLPB):c.646+7291G>A
NM_001258392.3(CLPB):c.646+7335T>C
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) rs1284671735
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) rs1555098495
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe)
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val)
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) rs1565433670
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)
NM_001698.2(AUH):c.*218_*219delAG rs1057515675
NM_001698.2(AUH):c.*259_*262delTTTA rs377176126
NM_001698.2(AUH):c.*29G>A rs200499826
NM_001698.2(AUH):c.*432C>T rs746233646
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.211A>C (p.Met71Leu) rs756127206
NM_001698.2(AUH):c.304T>A (p.Ser102Thr) rs1554721818
NM_001698.2(AUH):c.381A>G (p.Ile127Met) rs146227896
NM_001698.2(AUH):c.44T>A (p.Leu15Gln) rs757419657
NM_001698.2(AUH):c.598+10A>C rs186203318
NM_001698.2(AUH):c.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.713T>C (p.Phe238Ser)
NM_001698.2(AUH):c.719C>T (p.Ala240Val) rs769894315
NM_001698.2(AUH):c.730G>A (p.Asp244Asn) rs202182817
NM_001698.2(AUH):c.791G>A (p.Gly264Glu) rs376821113
NM_001698.2(AUH):c.84G>T (p.Ala28=) rs1057515676
NM_001698.2(AUH):c.942+4dup rs1554688047
NM_001698.2(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) rs387906757
NM_025136.3(OPA3):c.-47_-40delGCCCCGCC rs886054542
NM_025136.3(OPA3):c.-96A>G rs566870092
NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.3(AMN):c.400C>G (p.Arg134Gly) rs758317090
NM_030943.3(AMN):c.989C>A (p.Ala330Glu)
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe)
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys)
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys)
NM_032861.4(SERAC1):c.660A>G (p.Gln220=) rs776026202
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly)
NM_032861.4(SERAC1):c.92-13_92-10del rs779302645
NM_145261.4(DNAJC19):c.*190_*193ATTA[1] rs886058203
NM_145261.4(DNAJC19):c.*212C>T rs190670376
NM_145261.4(DNAJC19):c.*325T>C rs886058202
NM_145261.4(DNAJC19):c.*365T>C rs143458718
NM_145261.4(DNAJC19):c.*441G>A rs1805635
NM_145261.4(DNAJC19):c.*488G>C rs576646391
NM_145261.4(DNAJC19):c.*516A>G rs762130203
NM_145261.4(DNAJC19):c.*528_*529GT[9] rs148074891
NM_145261.4(DNAJC19):c.*645A>C rs146964003
NM_145261.4(DNAJC19):c.*692T>C rs555888288
NM_145261.4(DNAJC19):c.-121C>T rs886058205
NM_145261.4(DNAJC19):c.-29G>T rs181271620
NM_145261.4(DNAJC19):c.118C>T (p.Leu40=) rs886058204
NM_145261.4(DNAJC19):c.129+15A>C rs201697391
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val) rs372756221
NM_145261.4(DNAJC19):c.281-12T>C rs141982712
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His) rs756192515
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe)
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670

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