ClinVar Miner

List of variants reported as likely benign for 3-methylglutaconic aciduria

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NM_000116.5(TAZ):c.*396C>T rs144283894
NM_000116.5(TAZ):c.*560G>A rs782808430
NM_000116.5(TAZ):c.-88G>C rs113130344
NM_000116.5(TAZ):c.123C>T (p.His41=) rs368329470
NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAZ):c.542-20C>T rs373841640
NM_000116.5(TAZ):c.543G>A (p.Gly181=) rs782471244
NM_000116.5(TAZ):c.584-7del rs782192927
NM_000116.5(TAZ):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAZ):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAZ):c.657C>T (p.Asp219=) rs140751478
NM_000116.5(TAZ):c.660C>T (p.Val220=) rs372610945
NM_000116.5(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAZ):c.69C>T (p.Val23=) rs782123597
NM_000116.5(TAZ):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAZ):c.774G>A (p.Ser258=) rs782273950
NM_000116.5(TAZ):c.801G>A (p.Thr267=) rs781792950
NM_000116.5(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_001017989.2(OPA3):c.-113T>C rs139731330
NM_001017989.3(OPA3):c.-38A>G rs45527139
NM_001017989.3(OPA3):c.143-16877G>A rs74253369
NM_001017989.3(OPA3):c.143-16973A>G rs67373144
NM_001017989.3(OPA3):c.143-17043G>A rs112948303
NM_001017989.3(OPA3):c.143-17291G>A rs142898530
NM_001017989.3(OPA3):c.143-17616A>G rs76825983
NM_001017989.3(OPA3):c.143-17664G>A rs151030695
NM_001017989.3(OPA3):c.143-17764A>C rs114655581
NM_001017989.3(OPA3):c.143-17783T>C rs74689727
NM_001017989.3(OPA3):c.143-17850C>T rs139798464
NM_001017989.3(OPA3):c.143-17954_143-17953del rs142661638
NM_001017989.3(OPA3):c.143-18114G>A rs190885103
NM_001017989.3(OPA3):c.143-18153G>A rs116705343
NM_001017989.3(OPA3):c.143-18275G>A rs550679720
NM_001017989.3(OPA3):c.143-18533C>T rs117230006
NM_001017989.3(OPA3):c.143-19109G>A rs544881797
NM_001017989.3(OPA3):c.143-19264C>T rs114917731
NM_001017989.3(OPA3):c.143-19386G>A rs11669246
NM_001017989.3(OPA3):c.143-20086C>T rs147972697
NM_001017989.3(OPA3):c.143-20180A>G rs79660166
NM_001017989.3(OPA3):c.143-20184G>A rs62109650
NM_001017989.3(OPA3):c.143-20336G>A rs73568973
NM_001017989.3(OPA3):c.143-20527G>T rs112899014
NM_001017989.3(OPA3):c.143-20715TCTTT[2] rs373580645
NM_001017989.3(OPA3):c.143-20836C>T rs73568980
NM_001017989.3(OPA3):c.143-20846G>A rs79317386
NM_001017989.3(OPA3):c.143-20941C>T rs569595277
NM_001017989.3(OPA3):c.143-21020G>A rs73568982
NM_001017989.3(OPA3):c.143-21362C>G rs148705681
NM_001017989.3(OPA3):c.143-21540A>G rs565012397
NM_001017989.3(OPA3):c.143-21573G>A rs8106584
NM_001017989.3(OPA3):c.143-21589G>A rs115566341
NM_001017989.3(OPA3):c.143-21915_143-21914del rs532263532
NM_001017989.3(OPA3):c.143-21957A>T rs139606810
NM_001017989.3(OPA3):c.143-22050C>T rs144432336
NM_001017989.3(OPA3):c.143-22203T>C rs146599259
NM_001017989.3(OPA3):c.143-22222C>T rs74717111
NM_001017989.3(OPA3):c.143-22298C>T rs75401979
NM_001017989.3(OPA3):c.143-22416A>G rs144894771
NM_001017989.3(OPA3):c.143-22671C>T rs73568986
NM_001017989.3(OPA3):c.143-22718C>T rs12104391
NM_001017989.3(OPA3):c.143-22963C>A rs148228876
NM_001017989.3(OPA3):c.143-23420T>A rs150575877
NM_001017989.3(OPA3):c.143-23481T>C rs112654759
NM_001017989.3(OPA3):c.143-23636C>T rs116977551
NM_001017989.3(OPA3):c.143-23660G>T rs183851663
NM_001017989.3(OPA3):c.143-23696T>C rs73942919
NM_001017989.3(OPA3):c.143-23786G>A rs7246349
NM_001017989.3(OPA3):c.143-23978G>T rs540023428
NM_001017989.3(OPA3):c.143-24186G>A rs201574732
NM_001017989.3(OPA3):c.143-24231C>A rs1022155897
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.4206C>T (p.Phe1402=) rs563089365
NM_001081.3(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189
NM_001081.3(CUBN):c.7107G>A (p.Gly2369=) rs145537365
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) rs141458508
NM_001258392.3(CLPB):c.646+7280C>T rs759358526
NM_001258392.3(CLPB):c.646+7288G>A rs143097446
NM_001258392.3(CLPB):c.693C>T (p.Arg231=) rs149932193
NM_001698.2(AUH):c.*107A>G rs75505223
NM_001698.2(AUH):c.331-6G>A rs10991898
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001698.2(AUH):c.657G>A (p.Gly219=) rs141110052
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_001698.2(AUH):c.807G>A (p.Arg269=) rs145208407
NM_025136.3(OPA3):c.-75G>A rs45598532
NM_025136.3(OPA3):c.-86G>A rs73570932
NM_030943.3(AMN):c.735C>T (p.Pro245=) rs546245909

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