ClinVar Miner

List of variants in gene OPA3 reported as likely benign for 3-Methylglutaconic aciduria type 3

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.*6394G>A rs151030695 0.02197
NM_025136.4(OPA3):c.*7085A>G rs67373144 0.01608
NM_025136.4(OPA3):c.*1340C>T rs12104391 0.01224
NM_025136.4(OPA3):c.*2469G>A rs115566341 0.01165
NM_025136.4(OPA3):c.*1760C>T rs75401979 0.01143
NM_025136.4(OPA3):c.*4794C>T rs114917731 0.01114
NM_025136.4(OPA3):c.*3222C>T rs73568980 0.00971
NM_025136.4(OPA3):c.*6294A>C rs114655581 0.00810
NM_025136.4(OPA3):c.*1855T>C rs146599259 0.00697
NM_025136.4(OPA3):c.*5905G>A rs116705343 0.00675
NM_025136.4(OPA3):c.*2696C>G rs148705681 0.00585
NM_025136.4(OPA3):c.*362T>C rs73942919 0.00539
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583 0.00080
NM_025136.4(OPA3):c.*2143_*2144del rs532263532
NM_025136.4(OPA3):c.*3343TCTTT[2] rs373580645
NM_025136.4(OPA3):c.*6104_*6105del rs142661638

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