ClinVar Miner

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

Included ClinVar conditions (3):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001698.3(AUH):c.991A>T (p.Lys331Ter) rs387906757 0.00005
NM_001698.3(AUH):c.589C>T (p.Arg197Ter) rs121434636 0.00003
NM_001698.3(AUH):c.80del (p.Ser27fs) rs730880310 0.00003
NM_001698.3(AUH):c.943-2A>G rs730880312 0.00003
NM_001698.3(AUH):c.263-2A>G rs730880311 0.00001
NC_012920.1:m.3243A>G rs199474657
NG_008017.1:g.?_(11043_41520)del
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.3329+1G>T rs1205598688
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) rs2131820786
NM_001698.3(AUH):c.559G>A (p.Gly187Ser) rs387906755
NM_001698.3(AUH):c.650G>A (p.Gly217Asp) rs387906756
NM_001698.3(AUH):c.895-1G>A rs730880309

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