ClinVar Miner

List of variants reported as likely benign for 3-methylglutaconic aciduria type 3 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_025136.4(OPA3):c.*1340C>T rs12104391
NM_025136.4(OPA3):c.*1760C>T rs75401979
NM_025136.4(OPA3):c.*1855T>C rs146599259
NM_025136.4(OPA3):c.*2143_*2144del rs532263532
NM_025136.4(OPA3):c.*2469G>A rs115566341
NM_025136.4(OPA3):c.*2696C>G rs148705681
NM_025136.4(OPA3):c.*3222C>T rs73568980
NM_025136.4(OPA3):c.*3343_*3347TCTTT[2] rs373580645
NM_025136.4(OPA3):c.*362T>C rs73942919
NM_025136.4(OPA3):c.*4794C>T rs114917731
NM_025136.4(OPA3):c.*5905G>A rs116705343
NM_025136.4(OPA3):c.*6104_*6105del rs142661638
NM_025136.4(OPA3):c.*6294A>C rs114655581
NM_025136.4(OPA3):c.*6394G>A rs151030695
NM_025136.4(OPA3):c.*7085A>G rs67373144
NM_025136.4(OPA3):c.-38A>G rs45527139
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732

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