ClinVar Miner

List of variants reported as pathogenic for Methylmalonic aciduria cblB type by Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital

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Total variants: 3
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HGVS dbSNP
NM_052845.4(MMAB):c.2T>C (p.Met1Thr) rs869320655
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.563T>G (p.Val188Gly) rs869320654

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