ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
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HGVS dbSNP
NM_001017989.2(OPA3):c.142+2_142+3dup rs1555736791
NM_001017989.2(OPA3):c.143-16812G>A rs192699227
NM_001017989.2(OPA3):c.217G>T (p.Glu73Ter) rs759861826
NM_001017989.2(OPA3):c.221delG (p.Gly74Valfs) rs779350552
NM_001017989.2(OPA3):c.232G>T (p.Glu78Ter) rs763348163
NM_001017989.2(OPA3):c.256G>T (p.Glu86Ter) rs780614894
NM_001017989.2(OPA3):c.268_270delTTC (p.Phe90del) rs755084544
NM_001017989.2(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.2(OPA3):c.380delG (p.Gly127Alafs) rs1555730165
NM_001017989.2(OPA3):c.415C>T (p.Gln139Ter) rs762180740
NM_001017989.2(OPA3):c.421C>T (p.Gln141Ter) rs374175877
NM_001017989.2(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.2(OPA3):c.443del (p.Leu149Trpfs) rs780299639
NM_001017989.2(OPA3):c.448G>T (p.Glu150Ter) rs1555730157
NM_001017989.2(OPA3):c.535delGinsAA (p.Glu179Lysfs) rs1555730141
NM_001017989.2(OPA3):c.541T>C (p.Ter181Gln) rs1555730136
NM_001017989.2(OPA3):c.542_543del (p.Ter181=) rs1555730133
NM_025136.3(OPA3):c.*1076A>G rs886054533
NM_025136.3(OPA3):c.*1091C>G rs557691359
NM_025136.3(OPA3):c.*1213C>T rs539298843
NM_025136.3(OPA3):c.*1238G>A rs187216413
NM_025136.3(OPA3):c.*1254A>C rs886054532
NM_025136.3(OPA3):c.*1478A>G rs886054531
NM_025136.3(OPA3):c.*1799A>G rs886054530
NM_025136.3(OPA3):c.*1863T>G rs769185702
NM_025136.3(OPA3):c.*2089T>C rs886054529
NM_025136.3(OPA3):c.*24258C>T rs762247018
NM_025136.3(OPA3):c.*24359_*24363del rs1555730158
NM_025136.3(OPA3):c.*24457A>G rs375580763
NM_025136.3(OPA3):c.*2490C>T rs11671670
NM_025136.3(OPA3):c.*2545G>A rs886054528
NM_025136.3(OPA3):c.*2590G>T rs886054527
NM_025136.3(OPA3):c.*2702G>T rs886054526
NM_025136.3(OPA3):c.*2714C>T rs781539538
NM_025136.3(OPA3):c.*2896G>A rs190488484
NM_025136.3(OPA3):c.*302C>T rs886054540
NM_025136.3(OPA3):c.*322A>G rs886054539
NM_025136.3(OPA3):c.*326_*327delGT rs571672143
NM_025136.3(OPA3):c.*3278C>T rs770317628
NM_025136.3(OPA3):c.*3360G>A rs545764728
NM_025136.3(OPA3):c.*3496C>G rs749084024
NM_025136.3(OPA3):c.*3581C>T rs576070088
NM_025136.3(OPA3):c.*3755G>A rs555830952
NM_025136.3(OPA3):c.*3845C>T rs886054525
NM_025136.3(OPA3):c.*3884G>A rs187028696
NM_025136.3(OPA3):c.*3891C>T rs752997579
NM_025136.3(OPA3):c.*4026delA rs879119658
NM_025136.3(OPA3):c.*4026dupA rs879119658
NM_025136.3(OPA3):c.*420A>G rs868102539
NM_025136.3(OPA3):c.*4419C>T rs886054523
NM_025136.3(OPA3):c.*4439C>T rs538388889
NM_025136.3(OPA3):c.*4464G>T rs886054522
NM_025136.3(OPA3):c.*4521G>A rs886054521
NM_025136.3(OPA3):c.*4585C>T rs886054520
NM_025136.3(OPA3):c.*4586G>A rs886054519
NM_025136.3(OPA3):c.*4712delA rs886054518
NM_025136.3(OPA3):c.*4716_*4723dupATAAATAA rs58537694
NM_025136.3(OPA3):c.*4720_*4723delATAA rs58537694
NM_025136.3(OPA3):c.*4720_*4723dupATAA rs58537694
NM_025136.3(OPA3):c.*4853T>A rs886054516
NM_025136.3(OPA3):c.*4862_*4865delTAAA rs886054515
NM_025136.3(OPA3):c.*4919_*4921delAGT rs886054514
NM_025136.3(OPA3):c.*4954C>T rs146646433
NM_025136.3(OPA3):c.*4969C>G rs886054513
NM_025136.3(OPA3):c.*50_*52delTGG rs886054541
NM_025136.3(OPA3):c.*5258A>G rs886054512
NM_025136.3(OPA3):c.*5357G>A rs549141863
NM_025136.3(OPA3):c.*545G>T rs886054538
NM_025136.3(OPA3):c.*5496C>T rs886054511
NM_025136.3(OPA3):c.*5597C>T rs560019290
NM_025136.3(OPA3):c.*5739C>T rs375835737
NM_025136.3(OPA3):c.*5774G>C rs886054510
NM_025136.3(OPA3):c.*5774G>T rs886054510
NM_025136.3(OPA3):c.*5873C>T rs886054509
NM_025136.3(OPA3):c.*5888C>T rs886054508
NM_025136.3(OPA3):c.*6072A>G rs576104602
NM_025136.3(OPA3):c.*6125G>A rs780617440
NM_025136.3(OPA3):c.*6278G>A rs886054507
NM_025136.3(OPA3):c.*6289A>G rs182293743
NM_025136.3(OPA3):c.*6436_*6437insG rs886054506
NM_025136.3(OPA3):c.*6461C>T rs886054505
NM_025136.3(OPA3):c.*649C>T rs886054537
NM_025136.3(OPA3):c.*6570G>C rs773109015
NM_025136.3(OPA3):c.*6674T>C rs534603782
NM_025136.3(OPA3):c.*6688G>A rs181576269
NM_025136.3(OPA3):c.*6773G>T rs886054504
NM_025136.3(OPA3):c.*677C>T rs560749495
NM_025136.3(OPA3):c.*6902G>A rs528812143
NM_025136.3(OPA3):c.*7096_*7100delATTAT rs565521231
NM_025136.3(OPA3):c.*713C>G rs143735864
NM_025136.3(OPA3):c.*821A>T rs886054536
NM_025136.3(OPA3):c.*922G>T rs886054535
NM_025136.3(OPA3):c.*986dupA rs377547137
NM_025136.3(OPA3):c.-47_-40delGCCCCGCC rs886054542
NM_025136.3(OPA3):c.-7C>G rs199590627
NM_025136.3(OPA3):c.-96A>G rs566870092
NM_025136.3(OPA3):c.142+5G>C rs1250409781
NM_025136.3(OPA3):c.248_251dup (p.Gly85Alafs) rs1555732942
NM_025136.3(OPA3):c.331_333delAAG (p.Lys111del) rs1353357190
NM_025136.3(OPA3):c.334delG (p.Glu112Argfs) rs1555732911
NM_025136.3(OPA3):c.419_424dup (p.Gln141_Ala142insValGln) rs1363616568
NM_025136.3(OPA3):c.431delC (p.Pro144Argfs) rs1205708262
NM_025136.3(OPA3):c.444C>T (p.Ala148=) rs759536853
NM_025136.3(OPA3):c.470_478del9 (p.Gln157_Val159del) rs745544229
NM_025136.3(OPA3):c.487C>T (p.Leu163Phe) rs780492515
NM_025136.3(OPA3):c.8_10delTGG (p.Val3del) rs1555736840

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