ClinVar Miner

List of variants studied for 3-Methylglutaconic aciduria type 3 by Natera, Inc.

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Total variants: 6
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NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.15G>C (p.Ala5=)
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg)
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644

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