ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 108
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HGVS dbSNP
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_025136.3(OPA3):c.-47_-40delGCCCCGCC rs886054542
NM_025136.3(OPA3):c.-96A>G rs566870092

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