ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 196
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HGVS dbSNP
NM_000116.3(TAZ):c.-120delT rs11388353
NM_000116.4(TAZ):c.*387C>T rs1057515819
NM_000116.4(TAZ):c.*396C>T rs144283894
NM_000116.4(TAZ):c.*470C= rs743547
NM_000116.4(TAZ):c.*560G>A rs782808430
NM_000116.4(TAZ):c.-88G>C rs113130344
NM_000116.4(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.4(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.4(TAZ):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.4(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.4(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_001017989.2(OPA3):c.-113T>C rs139731330
NM_001017989.2(OPA3):c.143-16812G>A rs192699227
NM_001081.3(CUBN):c.10764+1G>A
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter)
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972Leufs)
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.7316C>G (p.Ser2439Ter)
NM_001081.3(CUBN):c.7857dup (p.Tyr2621Leufs)
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter)
NM_001698.2(AUH):c.*107A>G rs75505223
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.331-6G>A rs10991898
NM_001698.2(AUH):c.381A>G (p.Ile127Met) rs146227896
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001698.2(AUH):c.598+10A>C rs186203318
NM_001698.2(AUH):c.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.719C>T (p.Ala240Val) rs769894315
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_001698.2(AUH):c.84G>T (p.Ala28=) rs1057515676
NM_001698.2(AUH):c.951A>T (p.Pro317=) rs530710210
NM_025136.3(OPA3):c.*1076A>G rs886054533
NM_025136.3(OPA3):c.*1091C>G rs557691359
NM_025136.3(OPA3):c.*1095C>A rs148228876
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.*1294dupA rs74313320
NM_025136.3(OPA3):c.*1340C>T rs12104391
NM_025136.3(OPA3):c.*1387C>T rs73568986
NM_025136.3(OPA3):c.*1478A>G rs886054531
NM_025136.3(OPA3):c.*152G>A rs3826861
NM_025136.3(OPA3):c.*1642A>G rs144894771
NM_025136.3(OPA3):c.*1760C>T rs75401979
NM_025136.3(OPA3):c.*1799A>G rs886054530
NM_025136.3(OPA3):c.*1836C>T rs74717111
NM_025136.3(OPA3):c.*1855T>C rs146599259
NM_025136.3(OPA3):c.*1863T>G rs769185702
NM_025136.3(OPA3):c.*1950G>A rs4404183
NM_025136.3(OPA3):c.*2008C>T rs144432336
NM_025136.3(OPA3):c.*2089T>C rs886054529
NM_025136.3(OPA3):c.*2101A>T rs139606810
NM_025136.3(OPA3):c.*2143_*2144delGT rs532263532
NM_025136.3(OPA3):c.*2469G>A rs115566341
NM_025136.3(OPA3):c.*2485G>A rs8106584
NM_025136.3(OPA3):c.*2490C>T rs11671670
NM_025136.3(OPA3):c.*2518A>G rs565012397
NM_025136.3(OPA3):c.*2545G>A rs886054528
NM_025136.3(OPA3):c.*2590G>T rs886054527
NM_025136.3(OPA3):c.*2696C>G rs148705681
NM_025136.3(OPA3):c.*2702G>T rs886054526
NM_025136.3(OPA3):c.*2714C>T rs781539538
NM_025136.3(OPA3):c.*272G>A rs7246349
NM_025136.3(OPA3):c.*2896G>A rs190488484
NM_025136.3(OPA3):c.*302C>T rs886054540
NM_025136.3(OPA3):c.*3038G>A rs73568982
NM_025136.3(OPA3):c.*3114_*3116dupAGC rs542311224
NM_025136.3(OPA3):c.*3117C>T rs569595277
NM_025136.3(OPA3):c.*3212G>A rs79317386
NM_025136.3(OPA3):c.*3222C>T rs73568980
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.*3353_*3357delTCTTT rs373580645
NM_025136.3(OPA3):c.*3360G>A rs545764728
NM_025136.3(OPA3):c.*3387G>A rs3760844
NM_025136.3(OPA3):c.*3496C>G rs749084024
NM_025136.3(OPA3):c.*3531G>T rs112899014
NM_025136.3(OPA3):c.*3581C>T rs576070088
NM_025136.3(OPA3):c.*362T>C rs73942919
NM_025136.3(OPA3):c.*3722G>A rs73568973
NM_025136.3(OPA3):c.*3755G>A rs555830952
NM_025136.3(OPA3):c.*3845C>T rs886054525
NM_025136.3(OPA3):c.*3874G>A rs62109650
NM_025136.3(OPA3):c.*3878A>G rs79660166
NM_025136.3(OPA3):c.*3884G>A rs187028696
NM_025136.3(OPA3):c.*3891C>T rs752997579
NM_025136.3(OPA3):c.*3972C>T rs147972697
NM_025136.3(OPA3):c.*398G>T rs183851663
NM_025136.3(OPA3):c.*4026delA rs879119658
NM_025136.3(OPA3):c.*4026dupA rs879119658
NM_025136.3(OPA3):c.*4147_*4151delCCCTG rs68079762
NM_025136.3(OPA3):c.*420A>G rs868102539
NM_025136.3(OPA3):c.*422C>T rs116977551
NM_025136.3(OPA3):c.*4318T>C rs4802261
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.*4672G>A rs11669246
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.*4794C>T rs114917731
NM_025136.3(OPA3):c.*4850_*4852delAAA rs144752998
NM_025136.3(OPA3):c.*4853T>A rs886054516
NM_025136.3(OPA3):c.*4857A>T rs4803833
NM_025136.3(OPA3):c.*4862_*4865delTAAA rs886054515
NM_025136.3(OPA3):c.*4919_*4921delAGT rs886054514
NM_025136.3(OPA3):c.*4949G>A rs544881797
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.*5523G>A rs57585727
NM_025136.3(OPA3):c.*5525C>T rs117230006
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.*577T>C rs112654759
NM_025136.3(OPA3):c.*5783G>A rs550679720
NM_025136.3(OPA3):c.*5873C>T rs886054509
NM_025136.3(OPA3):c.*5888C>T rs886054508
NM_025136.3(OPA3):c.*5905G>A rs116705343
NM_025136.3(OPA3):c.*5944G>A rs190885103
NM_025136.3(OPA3):c.*6012A>G rs11083772
NM_025136.3(OPA3):c.*6072A>G rs576104602
NM_025136.3(OPA3):c.*6104_*6105delAA rs142661638
NM_025136.3(OPA3):c.*6125G>A rs780617440
NM_025136.3(OPA3):c.*6208C>T rs139798464
NM_025136.3(OPA3):c.*6275T>C rs74689727
NM_025136.3(OPA3):c.*6278G>A rs886054507
NM_025136.3(OPA3):c.*6289A>G rs182293743
NM_025136.3(OPA3):c.*6294A>C rs114655581
NM_025136.3(OPA3):c.*638T>A rs150575877
NM_025136.3(OPA3):c.*6394G>A rs151030695
NM_025136.3(OPA3):c.*6436_*6437insG rs886054506
NM_025136.3(OPA3):c.*6442A>G rs76825983
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.*6767G>A rs142898530
NM_025136.3(OPA3):c.*6773G>T rs886054504
NM_025136.3(OPA3):c.*677C>T rs560749495
NM_025136.3(OPA3):c.*6790T>C rs10422253
NM_025136.3(OPA3):c.*6902G>A rs528812143
NM_025136.3(OPA3):c.*7015G>A rs112948303
NM_025136.3(OPA3):c.*7085A>G rs67373144
NM_025136.3(OPA3):c.*7096_*7100delATTAT rs565521231
NM_025136.3(OPA3):c.*713C>G rs143735864
NM_025136.3(OPA3):c.*7181G>A rs74253369
NM_025136.3(OPA3):c.*80G>T rs540023428
NM_025136.3(OPA3):c.*821A>T rs886054536
NM_025136.3(OPA3):c.*922G>T rs886054535
NM_025136.3(OPA3):c.*986delA rs377547137
NM_025136.3(OPA3):c.*986dupA rs377547137
NM_025136.3(OPA3):c.-38A>G rs45527139
NM_025136.3(OPA3):c.-47_-40delGCCCCGCC rs886054542
NM_025136.3(OPA3):c.-75G>A rs45598532
NM_025136.3(OPA3):c.-86G>A rs73570932
NM_025136.3(OPA3):c.-96A>G rs566870092
NM_025136.3(OPA3):c.231T>C (p.Ala77=) rs3826860
NM_025136.3(OPA3):c.412G>A (p.Ala138Thr) rs201574732
NM_025136.3(OPA3):c.444C>T (p.Ala148=) rs759536853
NM_145261.3(DNAJC19):c.*188G>A rs1051411
NM_145261.3(DNAJC19):c.*194_*197delATTA rs886058203
NM_145261.3(DNAJC19):c.*212C>T rs190670376
NM_145261.3(DNAJC19):c.*325T>C rs886058202
NM_145261.3(DNAJC19):c.*365T>C rs143458718
NM_145261.3(DNAJC19):c.*441G>A rs1805635
NM_145261.3(DNAJC19):c.*488G>C rs576646391
NM_145261.3(DNAJC19):c.*516A>G rs762130203
NM_145261.3(DNAJC19):c.*542_*543dupGT rs148074891
NM_145261.3(DNAJC19):c.*645A>C rs146964003
NM_145261.3(DNAJC19):c.*692T>C rs555888288
NM_145261.3(DNAJC19):c.-121C>T rs886058205
NM_145261.3(DNAJC19):c.-29G>T rs181271620
NM_145261.3(DNAJC19):c.118C>T (p.Leu40=) rs886058204
NM_145261.3(DNAJC19):c.129+15A>C rs201697391
NM_145261.3(DNAJC19):c.281-12T>C rs141982712
NM_145261.3(DNAJC19):c.69G>A (p.Leu23=) rs142023670

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