ClinVar Miner

List of variants studied for 3-Methylglutaconic aciduria type 3 by GeneReviews

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Total variants: 3
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HGVS dbSNP gnomAD frequency
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.415C>T (p.Gln139Ter) rs28937899

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