ClinVar Miner

List of variants reported as pathogenic for METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC

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Total variants: 5
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NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.81G>A (p.Gln27=) rs1553162317
NM_181697.3(PRDX1):c.515-1G>T rs751828470
NM_181697.3(PRDX1):c.515-2A>T rs1379672870

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