ClinVar Miner

List of variants reported as uncertain significance for 3-methylglutaconic aciduria type 1 by Illumina Laboratory Services, Illumina

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_001698.3(AUH):c.*29G>A rs200499826 0.00116
NM_001698.3(AUH):c.598+10A>C rs186203318 0.00066
NM_001698.3(AUH):c.*432C>T rs746233646 0.00044
NM_001698.3(AUH):c.936T>C (p.Tyr312=) rs139628387 0.00029
NM_001698.3(AUH):c.678C>T (p.Arg226=) rs143768042 0.00015
NM_001698.3(AUH):c.679G>A (p.Ala227Thr) rs141700491 0.00010
NM_001698.3(AUH):c.*237G>A rs933932318 0.00009
NM_001698.3(AUH):c.*218_*219del rs1057515675 0.00006
NM_001698.3(AUH):c.1004G>A (p.Arg335His) rs529693736 0.00006
NM_001698.3(AUH):c.655+7G>A rs748099966 0.00002
NM_001698.3(AUH):c.719C>T (p.Ala240Val) rs769894315 0.00002
NM_001698.3(AUH):c.84G>T (p.Ala28=) rs1057515676 0.00001
NM_001698.3(AUH):c.894+9C>A rs1388023086 0.00001
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.3(AUH):c.*175G>A rs1826691653
NM_001698.3(AUH):c.*259_*262del rs377176126
NM_001698.3(AUH):c.*60G>A rs1564001076
NM_001698.3(AUH):c.951A>T (p.Pro317=) rs530710210

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