ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria type 1 by Revvity Omics, Revvity

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001698.3(AUH):c.158G>T (p.Gly53Val) rs747819278 0.00005
NM_001698.3(AUH):c.676C>T (p.Arg226Cys) rs148157596 0.00002
NM_001698.3(AUH):c.1A>G (p.Met1Val)
NM_001698.3(AUH):c.656G>C (p.Gly219Ala) rs1827104191

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