ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria type 1 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 10
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AMN, IVS3, A-G, -2
NC_012920.1:m.3243A>G rs199474657
NM_001698.2(AUH):c.263-2A>G rs730880311
NM_001698.2(AUH):c.559G>A (p.Gly187Ser) rs387906755
NM_001698.2(AUH):c.589C>T (p.Arg197Ter) rs121434636
NM_001698.2(AUH):c.650G>A (p.Gly217Asp) rs387906756
NM_001698.2(AUH):c.80del (p.Ser27fs) rs730880310
NM_001698.2(AUH):c.895-1G>A rs730880309
NM_001698.2(AUH):c.943-2A>G rs730880312
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) rs387906757

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