ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001698.3(AUH):c.721C>T (p.Arg241Ter) rs200212229 0.00012
NM_001698.3(AUH):c.991A>T (p.Lys331Ter) rs387906757 0.00005
NM_001698.3(AUH):c.824C>T (p.Ala275Val) rs748318386 0.00004
NM_001698.3(AUH):c.589C>T (p.Arg197Ter) rs121434636 0.00003
NM_001698.3(AUH):c.943-2A>G rs730880312 0.00003
NM_001698.3(AUH):c.505+1G>C rs773652620 0.00002
NM_001698.3(AUH):c.263-2A>G rs730880311 0.00001
NC_000009.12:g.(?_91220785)_(91221012_?)del
NC_000009.12:g.91220993dup rs781142774
NG_008017.1:g.?_(11043_41520)del
NM_001698.3(AUH):c.330+1G>A rs751318305
NM_001698.3(AUH):c.419-2A>G
NM_001698.3(AUH):c.471del (p.Phe157fs)
NM_001698.3(AUH):c.516dup (p.Val173fs)
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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