ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria by Counsyl

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_001017989.3(OPA3):c.-7C>G rs199590627
NM_001017989.3(OPA3):c.100dup (p.Ser34fs) rs1555736803
NM_001017989.3(OPA3):c.142+1G>A rs1555736793
NM_001017989.3(OPA3):c.142+5G>C rs1250409781
NM_001017989.3(OPA3):c.143-24059A>G rs1057516497
NM_001017989.3(OPA3):c.143-24111C>T rs780492515
NM_001017989.3(OPA3):c.143-24128_143-24120del rs745544229
NM_001017989.3(OPA3):c.143-24167del rs1205708262
NM_001017989.3(OPA3):c.143-24179_143-24174dup rs1363616568
NM_001017989.3(OPA3):c.143-24183C>T rs28937899
NM_001017989.3(OPA3):c.143-24264del rs1555732911
NM_001017989.3(OPA3):c.143-24267_143-24265del rs1353357190
NM_001017989.3(OPA3):c.143-24350_143-24347dup rs1555732942
NM_001017989.3(OPA3):c.143-24381dup rs1555732963
NM_001017989.3(OPA3):c.143-24456G>C rs80356523
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter) rs759861826
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.2_4TGG[2] (p.Val3del) rs1555736840
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.415C>T (p.Gln139Ter) rs762180740
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter) rs374175877
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) rs1555730158
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_001017989.3(OPA3):c.61A>T (p.Lys21Ter) rs1555736814
NM_025136.3(OPA3):c.-47_-40delGCCCCGCC rs886054542

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.