ClinVar Miner

List of variants in gene MMAA reported as uncertain significance for Methylmalonic acidemia

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_172250.3(MMAA):c.*1838G>A rs886059098 0.00006
NM_172250.3(MMAA):c.787C>T (p.Leu263=) rs759947234 0.00003
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu) rs369128670 0.00002
NM_172250.3(MMAA):c.*2019A>G rs886059102 0.00001
NM_172250.3(MMAA):c.*1897_*1901del rs377206435
NM_172250.3(MMAA):c.*2617C>A rs886059108
NM_172250.3(MMAA):c.*3257del rs886059113
NM_172250.3(MMAA):c.*3356del rs577478683
NM_172250.3(MMAA):c.*589C>G rs886059095

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