ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001017989.3(OPA3):c.143-24183C>T rs28937899
NM_001017989.3(OPA3):c.143-24276_143-24259del rs80356526
NM_001017989.3(OPA3):c.143-24456G>C rs80356523

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