ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del) rs80356526
NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter) rs28937899

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