ClinVar Miner

List of variants studied for classic organic aciduria by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001258392.3(CLPB):c.221dup (p.Gly76fs)
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476

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