ClinVar Miner

List of variants in gene combination MMACHC, PRDX1 reported as pathogenic for METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_181697.3(PRDX1):c.515-1G>T rs751828470
NM_181697.3(PRDX1):c.515-2A>T rs1379672870

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