ClinVar Miner

List of variants reported for 3-methylglutaconic aciduria type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr) rs74484860 0.00593
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_001698.3(AUH):c.730G>A (p.Asp244Asn) rs202182817 0.00039
NM_001698.3(AUH):c.791G>A (p.Gly264Glu) rs376821113 0.00024
NM_001698.3(AUH):c.679G>A (p.Ala227Thr) rs141700491 0.00010
NM_001698.3(AUH):c.998C>T (p.Pro333Leu) rs541546111 0.00009
NM_001698.3(AUH):c.589C>T (p.Arg197Ter) rs121434636 0.00003

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