ClinVar Miner

List of variants reported as likely pathogenic for 3-methylglutaconic aciduria type 3 by Counsyl

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_025136.4(OPA3):c.100dup (p.Ser34fs) rs1555736803
NM_025136.4(OPA3):c.142+1G>A rs1555736793
NM_025136.4(OPA3):c.217dup (p.Glu73fs) rs1555732963
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter) rs28937899
NM_025136.4(OPA3):c.539A>G (p.Ter180Trp) rs1057516497
NM_025136.4(OPA3):c.61A>T (p.Lys21Ter) rs1555736814

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