ClinVar Miner

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

Included ClinVar conditions (2):

3-Methylglutaconic aciduria type 1
Megaloblastic anemia due to inborn errors of metabolism

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 2

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HGVS	dbSNP
NM_001698.2(AUH):c.373C>T (p.Arg125Trp)	rs200030276
NM_001698.2(AUH):c.599-2A>G

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