ClinVar Miner

List of variants in gene AUH reported as benign 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: 9
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HGVS dbSNP gnomAD frequency
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_001698.3(AUH):c.331-6G>A rs10991898 0.08502
NM_001698.3(AUH):c.*107A>G rs75505223 0.01845
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_001698.3(AUH):c.*200A>G rs113687423 0.00297
NM_001698.3(AUH):c.678C>T (p.Arg226=) rs143768042 0.00015
NM_001698.3(AUH):c.943-6T>C rs778134028 0.00002
NM_001698.3(AUH):c.895-9del rs1194639501
NM_001698.3(AUH):c.943-6del rs1826708001

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