ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001081.3(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442

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