ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000255.3(MMUT):c.322C>T rs121918257
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684

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