ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_001698.2(AUH):c.373C>T (p.Arg125Trp) rs200030276
NM_001698.2(AUH):c.599-2A>G rs1587799880

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