ClinVar Miner

List of variants reported as uncertain significance for 3-Methylglutaconic aciduria type 3 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 165
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HGVS dbSNP
NM_001017989.2(OPA3):c.-113T>C rs139731330
NM_001017989.3(OPA3):c.143-16812G>A rs192699227
NM_025136.3(OPA3):c.-47_-40delGCCCCGCC rs886054542
NM_025136.3(OPA3):c.-96A>G rs566870092
NM_025136.4(OPA3):c.*1018A>G
NM_025136.4(OPA3):c.*1052C>T
NM_025136.4(OPA3):c.*1063G>A
NM_025136.4(OPA3):c.*1070C>T
NM_025136.4(OPA3):c.*1076A>G rs886054533
NM_025136.4(OPA3):c.*1091C>G rs557691359
NM_025136.4(OPA3):c.*1095C>A rs148228876
NM_025136.4(OPA3):c.*1193A>G
NM_025136.4(OPA3):c.*1213C>T rs539298843
NM_025136.4(OPA3):c.*1214G>A
NM_025136.4(OPA3):c.*1238G>A rs187216413
NM_025136.4(OPA3):c.*1254A>C rs886054532
NM_025136.4(OPA3):c.*1462C>T
NM_025136.4(OPA3):c.*1478A>G rs886054531
NM_025136.4(OPA3):c.*1496C>T
NM_025136.4(OPA3):c.*1614C>T
NM_025136.4(OPA3):c.*1642A>G rs144894771
NM_025136.4(OPA3):c.*1693C>T
NM_025136.4(OPA3):c.*1761A>T
NM_025136.4(OPA3):c.*1799A>G rs886054530
NM_025136.4(OPA3):c.*1836C>T rs74717111
NM_025136.4(OPA3):c.*1863T>G rs769185702
NM_025136.4(OPA3):c.*2008C>T rs144432336
NM_025136.4(OPA3):c.*2041C>G
NM_025136.4(OPA3):c.*2089T>C rs886054529
NM_025136.4(OPA3):c.*2101A>T rs139606810
NM_025136.4(OPA3):c.*2188G>A
NM_025136.4(OPA3):c.*2198C>T
NM_025136.4(OPA3):c.*2490C>T rs11671670
NM_025136.4(OPA3):c.*2518A>G rs565012397
NM_025136.4(OPA3):c.*2545G>A rs886054528
NM_025136.4(OPA3):c.*2590G>T rs886054527
NM_025136.4(OPA3):c.*2620C>A
NM_025136.4(OPA3):c.*2662G>A
NM_025136.4(OPA3):c.*2702G>T rs886054526
NM_025136.4(OPA3):c.*2714C>T rs781539538
NM_025136.4(OPA3):c.*2726G>C
NM_025136.4(OPA3):c.*2859A>T
NM_025136.4(OPA3):c.*2896G>A rs190488484
NM_025136.4(OPA3):c.*2964T>C
NM_025136.4(OPA3):c.*302C>T rs886054540
NM_025136.4(OPA3):c.*3117C>T rs569595277
NM_025136.4(OPA3):c.*3128C>G
NM_025136.4(OPA3):c.*3156G>T
NM_025136.4(OPA3):c.*322A>G rs886054539
NM_025136.4(OPA3):c.*3245C>T
NM_025136.4(OPA3):c.*324_*325GT[1] rs571672143
NM_025136.4(OPA3):c.*3278C>T rs770317628
NM_025136.4(OPA3):c.*3295C>G
NM_025136.4(OPA3):c.*3350T>G
NM_025136.4(OPA3):c.*3358C>G
NM_025136.4(OPA3):c.*3360G>A rs545764728
NM_025136.4(OPA3):c.*3442A>G
NM_025136.4(OPA3):c.*3472G>A
NM_025136.4(OPA3):c.*3496C>G rs749084024
NM_025136.4(OPA3):c.*3570C>T
NM_025136.4(OPA3):c.*3581C>T rs576070088
NM_025136.4(OPA3):c.*3644C>T
NM_025136.4(OPA3):c.*3669G>T
NM_025136.4(OPA3):c.*3754C>T
NM_025136.4(OPA3):c.*3755G>A rs555830952
NM_025136.4(OPA3):c.*3804G>A
NM_025136.4(OPA3):c.*3845C>T rs886054525
NM_025136.4(OPA3):c.*3884G>A rs187028696
NM_025136.4(OPA3):c.*3891C>T rs752997579
NM_025136.4(OPA3):c.*398G>T rs183851663
NM_025136.4(OPA3):c.*4026del rs879119658
NM_025136.4(OPA3):c.*4026dup rs879119658
NM_025136.4(OPA3):c.*420A>G rs868102539
NM_025136.4(OPA3):c.*422C>T rs116977551
NM_025136.4(OPA3):c.*4233G>A
NM_025136.4(OPA3):c.*4241C>T
NM_025136.4(OPA3):c.*4372G>A
NM_025136.4(OPA3):c.*4419C>T rs886054523
NM_025136.4(OPA3):c.*4439C>T rs538388889
NM_025136.4(OPA3):c.*4464G>T rs886054522
NM_025136.4(OPA3):c.*4521G>A rs886054521
NM_025136.4(OPA3):c.*4585C>T rs886054520
NM_025136.4(OPA3):c.*4586G>A rs886054519
NM_025136.4(OPA3):c.*4618G>A
NM_025136.4(OPA3):c.*4696_*4699ATAA[6] rs58537694
NM_025136.4(OPA3):c.*4696_*4699ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4696_*4699ATAA[9] rs58537694
NM_025136.4(OPA3):c.*4712del rs886054518
NM_025136.4(OPA3):c.*4763C>A
NM_025136.4(OPA3):c.*4771C>G
NM_025136.4(OPA3):c.*4773A>G
NM_025136.4(OPA3):c.*4846A>T
NM_025136.4(OPA3):c.*4853T>A rs886054516
NM_025136.4(OPA3):c.*4862_*4865del rs886054515
NM_025136.4(OPA3):c.*4919_*4921del rs886054514
NM_025136.4(OPA3):c.*4949G>A rs544881797
NM_025136.4(OPA3):c.*4954C>T rs146646433
NM_025136.4(OPA3):c.*4969C>G rs886054513
NM_025136.4(OPA3):c.*4975C>T
NM_025136.4(OPA3):c.*5013A>G
NM_025136.4(OPA3):c.*5045C>T
NM_025136.4(OPA3):c.*50_*52del rs886054541
NM_025136.4(OPA3):c.*5258A>G rs886054512
NM_025136.4(OPA3):c.*5277G>A
NM_025136.4(OPA3):c.*5357G>A rs549141863
NM_025136.4(OPA3):c.*540G>T
NM_025136.4(OPA3):c.*545G>T rs886054538
NM_025136.4(OPA3):c.*5496C>T rs886054511
NM_025136.4(OPA3):c.*5510G>A
NM_025136.4(OPA3):c.*5565C>T
NM_025136.4(OPA3):c.*5570C>T
NM_025136.4(OPA3):c.*5597C>T rs560019290
NM_025136.4(OPA3):c.*5644A>G
NM_025136.4(OPA3):c.*5660A>G
NM_025136.4(OPA3):c.*5730C>T
NM_025136.4(OPA3):c.*5739C>T rs375835737
NM_025136.4(OPA3):c.*5774G>C rs886054510
NM_025136.4(OPA3):c.*5774G>T rs886054510
NM_025136.4(OPA3):c.*5783G>A rs550679720
NM_025136.4(OPA3):c.*5873C>T rs886054509
NM_025136.4(OPA3):c.*5888C>T rs886054508
NM_025136.4(OPA3):c.*5923G>A
NM_025136.4(OPA3):c.*5944G>A rs190885103
NM_025136.4(OPA3):c.*6046G>A
NM_025136.4(OPA3):c.*6072A>G rs576104602
NM_025136.4(OPA3):c.*6101A>G
NM_025136.4(OPA3):c.*6124C>T
NM_025136.4(OPA3):c.*6125G>A rs780617440
NM_025136.4(OPA3):c.*6208C>T rs139798464
NM_025136.4(OPA3):c.*6278G>A rs886054507
NM_025136.4(OPA3):c.*6289A>G rs182293743
NM_025136.4(OPA3):c.*6361G>A
NM_025136.4(OPA3):c.*6436_*6437insG rs886054506
NM_025136.4(OPA3):c.*6442A>G rs76825983
NM_025136.4(OPA3):c.*6461C>T rs886054505
NM_025136.4(OPA3):c.*649C>T rs886054537
NM_025136.4(OPA3):c.*6554G>A
NM_025136.4(OPA3):c.*6570G>C rs773109015
NM_025136.4(OPA3):c.*6626G>A
NM_025136.4(OPA3):c.*6674T>C rs534603782
NM_025136.4(OPA3):c.*6688G>A rs181576269
NM_025136.4(OPA3):c.*6698G>T
NM_025136.4(OPA3):c.*6766C>T
NM_025136.4(OPA3):c.*6767G>A rs142898530
NM_025136.4(OPA3):c.*6773G>T rs886054504
NM_025136.4(OPA3):c.*677C>T rs560749495
NM_025136.4(OPA3):c.*6902G>A rs528812143
NM_025136.4(OPA3):c.*690G>T
NM_025136.4(OPA3):c.*698G>A
NM_025136.4(OPA3):c.*7018G>C
NM_025136.4(OPA3):c.*7072A>T
NM_025136.4(OPA3):c.*7096_*7100del rs565521231
NM_025136.4(OPA3):c.*713C>G rs143735864
NM_025136.4(OPA3):c.*7181G>A rs74253369
NM_025136.4(OPA3):c.*7183G>A
NM_025136.4(OPA3):c.*742A>T
NM_025136.4(OPA3):c.*761C>T
NM_025136.4(OPA3):c.*80G>T rs540023428
NM_025136.4(OPA3):c.*821A>T rs886054536
NM_025136.4(OPA3):c.*922G>T rs886054535
NM_025136.4(OPA3):c.*964G>A
NM_025136.4(OPA3):c.*986dup rs377547137
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853
NM_025136.4(OPA3):c.94C>A (p.Arg32Ser)

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