ClinVar Miner

List of variants reported as pathogenic for 3-methylglutaconic aciduria type 1

Included ClinVar conditions (2):
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Total variants: 20
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HGVS dbSNP
AMN, IVS3, A-G, -2
NC_000014.9:g.(?_102870182)_(102930700_?)del
NC_012920.1:m.3243A>G rs199474657
NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter)
NM_001081.3(CUBN):c.5600del (p.Phe1867Serfs)
NM_001081.3(CUBN):c.6928_6934delGAGGTTA (p.Glu2310Cysfs) rs757649673
NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter)
NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter)
NM_001698.2(AUH):c.(?_1)_(418_?)+1del
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.Ser27Metfs) 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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