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: 4
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NM_000255.4(MMUT):c.1243G>T (p.Glu415Ter)
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_030943.3(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.4(AMN):c.208-2A>G rs386834170

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