ClinVar Miner

List of variants studied for classic organic aciduria by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851

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