ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria type 3 by Counsyl

Included ClinVar conditions (2):
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.-7C>G rs199590627 0.00041
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter) rs762180740 0.00010
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter) rs374175877 0.00004
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter) rs759861826 0.00003
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe) rs780492515 0.00001
NM_001017989.3(OPA3):c.221del (p.Gly74fs) rs779350552
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter) rs763348163
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter) rs780614894
NM_001017989.3(OPA3):c.268_270del (p.Phe90del) rs755084544
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001017989.3(OPA3):c.380del (p.Gly127fs) rs1555730165
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) rs1599947088
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter) rs1555730157
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln) rs1555730136
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp) rs375580763
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer) rs1555730133
NM_025136.3(OPA3):c.-48_-41delCGCCCCGC rs886054542
NM_025136.4(OPA3):c.100dup (p.Ser34fs) rs1555736803
NM_025136.4(OPA3):c.142+1G>A rs1555736793
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_025136.4(OPA3):c.217dup (p.Glu73fs) rs1555732963
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs) rs1555732942
NM_025136.4(OPA3):c.2TGG[2] (p.Val3del) rs1555736840
NM_025136.4(OPA3):c.331_333del (p.Lys111del) rs1353357190
NM_025136.4(OPA3):c.334del (p.Glu112fs) rs1555732911
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter) rs28937899
NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup) rs1363616568
NM_025136.4(OPA3):c.431del (p.Pro144fs) rs1205708262
NM_025136.4(OPA3):c.470_478del (p.Gln157_Val159del) rs745544229
NM_025136.4(OPA3):c.539A>G (p.Ter180Trp) rs1057516497
NM_025136.4(OPA3):c.61A>T (p.Lys21Ter) rs1555736814

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